A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050124



Internal ID18792655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24698748..24755527hg38UCSC Ensembl
Innerchr13:25272886..25329665hg19UCSC Ensembl
Innerchr13:24170886..24227665hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3856780
hg1956780
hg1856780
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1621n100
Supporting Variantsnssv3523197
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)nsv1050124
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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