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Cursos Gerais ·
Genética
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Preview text
DADOS CLÍNICOS CARIÓTIPO Sample Analysis Information Export Sample Type Blood constitutional Phenotype Transtorno do espectro do autismo dismorfismos faciais estenose subglotica anomalia de 1ºQD Data Files In View File Name 57303393801cy750Kcychp 57303393801cy750Kcychp Genome Filters Segment Type Filter Type Minimum Filter Value Gain Marker Count 50 Loss Marker Count 25 LOH Segment Length 5000000 Settings for 57303393801cy750Kcychp Setting Type Setting Smoothing On Smoothing Max Jump Limit Off Joining 25 Markers 200 kbp Joining Max Jump Limit Off Restricted Mode Off QC Metrics mapd 025 snpQC 12 wavinessSd 012 Sample Info and QC Export Sample Info File 57303393801cy750Kcychp QC true snpQC CHP Summary 19993 mapd CHP Summary 0178 wavinessSd CHP Summary 0048 name Algorithm CYTO2 version Algorithm 220 sexCall Biology male autosomeGenomeLOH CHP Summary 000755882 arrayType Affx CytoScan 750K Array parameterFile Algorithm annotationFile Algorithm CAffymetrixChASLibraryCytoScan750KArrayna33annotdb referenceFile Algorithm CytoScan750KArrayna33r3REFMODEL created General Nov 20 2018 41147 PM modified General Nov 20 2018 41150 PM snpQcType CHP Summary nonND ndSnpQc CHP Summary 19993 celPairCheckStatus CHP Summary ndWavinessSd CHP Summary 0048270103 lowDiploidFlag CHP Summary Unknown tuscanPercentAC CHP Summary tuscanPloidy CHP Summary Karyoview Export Segment Table Microarray Nomenclature 57303393801cy750Kcychp arr GRCh37 4q3123150496149150757656x1 4q342q351176955623185047870x1 Segments File 57303393801cy750Kcychp CN State 100 Type Loss Chromosome 4 Cytoband Start q3123 Size kbp 262 Marker Count 54 Gene Count 0 Genes OMIM Genes Count 0 OMIM Genes Call Segment Interpretation Curation By Microarray Nomenclature arr hg19 4q3123150496149 150757656x 1 File 57303393801cy750Kcychp CN State 100 Type Loss Chromosome 4 Cytoband Start q342 Size kbp 8092 Marker Count 1732 Gene Count 27 Genes WDR17 SPATA4 ASB5 SPCS3 VEGFC NEIL3 AGA LINC01098 LINC01099 LINC00290 LOC90768 MIR1305 TENM3 DCTD FAM92A1P2 WWC2AS2 WWC2 WWC2AS1 CLDN22 CLDN24 CDKN2AIP LOC389247 ING2 RWDD4 TRAPPC11 STOX2 ENPP6 OMIM Genes Count 12 OMIM Genes WDR17 609005 SPATA4 609879 ASB5 615050 VEGFC 601528 NEIL3 608934 AGA 613228 TENM3 610083 DCTD 607638 CDKN2AIP 615914 ING2 604215 TRAPPC11 614138 ENPP6 616983 Call Segment Interpretation Curation By Materially Modified Segment false Microarray Nomenclature arrhg19 4q342q351176955623 185047870x 1 57303393801cy750Kcychp
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Preview text
DADOS CLÍNICOS CARIÓTIPO Sample Analysis Information Export Sample Type Blood constitutional Phenotype Transtorno do espectro do autismo dismorfismos faciais estenose subglotica anomalia de 1ºQD Data Files In View File Name 57303393801cy750Kcychp 57303393801cy750Kcychp Genome Filters Segment Type Filter Type Minimum Filter Value Gain Marker Count 50 Loss Marker Count 25 LOH Segment Length 5000000 Settings for 57303393801cy750Kcychp Setting Type Setting Smoothing On Smoothing Max Jump Limit Off Joining 25 Markers 200 kbp Joining Max Jump Limit Off Restricted Mode Off QC Metrics mapd 025 snpQC 12 wavinessSd 012 Sample Info and QC Export Sample Info File 57303393801cy750Kcychp QC true snpQC CHP Summary 19993 mapd CHP Summary 0178 wavinessSd CHP Summary 0048 name Algorithm CYTO2 version Algorithm 220 sexCall Biology male autosomeGenomeLOH CHP Summary 000755882 arrayType Affx CytoScan 750K Array parameterFile Algorithm annotationFile Algorithm CAffymetrixChASLibraryCytoScan750KArrayna33annotdb referenceFile Algorithm CytoScan750KArrayna33r3REFMODEL created General Nov 20 2018 41147 PM modified General Nov 20 2018 41150 PM snpQcType CHP Summary nonND ndSnpQc CHP Summary 19993 celPairCheckStatus CHP Summary ndWavinessSd CHP Summary 0048270103 lowDiploidFlag CHP Summary Unknown tuscanPercentAC CHP Summary tuscanPloidy CHP Summary Karyoview Export Segment Table Microarray Nomenclature 57303393801cy750Kcychp arr GRCh37 4q3123150496149150757656x1 4q342q351176955623185047870x1 Segments File 57303393801cy750Kcychp CN State 100 Type Loss Chromosome 4 Cytoband Start q3123 Size kbp 262 Marker Count 54 Gene Count 0 Genes OMIM Genes Count 0 OMIM Genes Call Segment Interpretation Curation By Microarray Nomenclature arr hg19 4q3123150496149 150757656x 1 File 57303393801cy750Kcychp CN State 100 Type Loss Chromosome 4 Cytoband Start q342 Size kbp 8092 Marker Count 1732 Gene Count 27 Genes WDR17 SPATA4 ASB5 SPCS3 VEGFC NEIL3 AGA LINC01098 LINC01099 LINC00290 LOC90768 MIR1305 TENM3 DCTD FAM92A1P2 WWC2AS2 WWC2 WWC2AS1 CLDN22 CLDN24 CDKN2AIP LOC389247 ING2 RWDD4 TRAPPC11 STOX2 ENPP6 OMIM Genes Count 12 OMIM Genes WDR17 609005 SPATA4 609879 ASB5 615050 VEGFC 601528 NEIL3 608934 AGA 613228 TENM3 610083 DCTD 607638 CDKN2AIP 615914 ING2 604215 TRAPPC11 614138 ENPP6 616983 Call Segment Interpretation Curation By Materially Modified Segment false Microarray Nomenclature arrhg19 4q342q351176955623 185047870x 1 57303393801cy750Kcychp