A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574763



Internal ID16015486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36110820..36192375hg38UCSC Ensembl
Innerchr17:34438213..34519762hg19UCSC Ensembl
Innerchr17:31462326..31543875hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3881556
hg1981550
hg1881550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5536n54
Supporting Variantsnssv869865, nssv869864
Samples
Known GenesTBC1D3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574763
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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