A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv673371



Internal ID15063337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99601928..99612012hg38UCSC Ensembl
Innerchr12:99995706..100005790hg19UCSC Ensembl
Innerchr12:98519837..98529921hg18UCSC Ensembl
Innerchr12:98498174..98508258hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3810085
hg1910085
hg1810085
hg1710085
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517202
Supporting Variants
Samples
Known GenesANKS1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv673371
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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