A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694065



Internal ID15430717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:77816918..77937027hg38UCSC Ensembl
Innerchr12:78210698..78330807hg19UCSC Ensembl
Innerchr12:76734829..76854938hg18UCSC Ensembl
Innerchr12:76713166..76833275hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38120110
hg19120110
hg18120110
hg17120110
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518576
Supporting Variants
Samples
Known GenesNAV3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694065
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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