A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574991



Internal ID16015714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39613752..39674782hg38UCSC Ensembl
Innerchr17:37770005..37831035hg19UCSC Ensembl
Innerchr17:35023531..35084561hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3861031
hg1961031
hg1861031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149704
Samples1780862585_A
Known GenesPGAP3, PNMT, PPP1R1B, STARD3, TCAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574991
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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