A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040156



Internal ID18782687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24706522..24762408hg38UCSC Ensembl
Innerchr13:25280660..25336546hg19UCSC Ensembl
Innerchr13:24178660..24234546hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3855887
hg1955887
hg1855887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1621n100
Supporting Variantsnssv3523201
Samples
Known GenesATP12A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040156
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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