A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697816



Internal ID15434468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80297967..80318152hg38UCSC Ensembl
Innerchr12:80691747..80711932hg19UCSC Ensembl
Innerchr12:79215878..79236063hg18UCSC Ensembl
Innerchr12:79194215..79214400hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3820186
hg1920186
hg1820186
hg1720186
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521152
Supporting Variants
Samples
Known GenesOTOGL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697816
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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