A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561578



Internal ID16002301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:45415321..45479409hg38UCSC Ensembl
Innerchr13:45989456..46053544hg19UCSC Ensembl
Innerchr13:44887456..44951545hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3864089
hg1964089
hg1864090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175933
SamplesHGDP00682
Known GenesCOG3, SLC25A30
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561578
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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