A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520892



Internal ID15448185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41644369..41664336hg38UCSC Ensembl
Innerchr12:42038171..42058138hg19UCSC Ensembl
Innerchr12:40324438..40344405hg18UCSC Ensembl
Innerchr12:40324438..40344405hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3819968
hg1919968
hg1819968
hg1719968
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv683046, nssv677087
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520892
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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