A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694159



Internal ID15430811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31776837..31828359hg38UCSC Ensembl
Innerchr12:31929771..31981293hg19UCSC Ensembl
Innerchr12:31821038..31872560hg18UCSC Ensembl
Innerchr12:31821038..31872560hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3851523
hg1951523
hg1851523
hg1751523
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522362
Supporting Variants
Samples
Known GenesH3F3C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694159
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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