A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696447



Internal ID15086413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57139199..57243810hg38UCSC Ensembl
Innerchr12:57532982..57637593hg19UCSC Ensembl
Innerchr12:55819249..55923860hg18UCSC Ensembl
Innerchr12:55819249..55923860hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38104612
hg19104612
hg18104612
hg17104612
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518980
Supporting Variants
Samples
Known GenesLRP1, MIR1228, NDUFA4L2, NXPH4, SHMT2, STAC3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696447
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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