A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521274



Internal ID15448567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22184271..22312841hg38UCSC Ensembl
Innerchr12:22337205..22465775hg19UCSC Ensembl
Innerchr12:22228472..22357042hg18UCSC Ensembl
Innerchr12:22228472..22357042hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38128571
hg19128571
hg18128571
hg17128571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv692291, nssv691620
Samples
Known GenesST8SIA1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521274
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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