A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694009



Internal ID15083975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122850980..122903375hg38UCSC Ensembl
Innerchr12:123335527..123387922hg19UCSC Ensembl
Innerchr12:121901480..121953875hg18UCSC Ensembl
Innerchr12:121860407..121912802hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3852396
hg1952396
hg1852396
hg1752396
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517200
Supporting Variants
Samples
Known GenesHIP1R, VPS37B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694009
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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