A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569440



Internal ID16010163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:53598165..54163560hg38UCSC Ensembl
Innerchr15:53890362..54455757hg19UCSC Ensembl
Innerchr15:51677654..52243049hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38565396
hg19565396
hg18565396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4531n54
Supporting Variantsnssv1148869
SamplesHGDP00726
Known GenesUNC13C, WDR72
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569440
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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