A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692890



Internal ID15082856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53055537..53227927hg38UCSC Ensembl
Innerchr12:53449321..53621711hg19UCSC Ensembl
Innerchr12:51735588..51907978hg18UCSC Ensembl
Innerchr12:51735588..51907978hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38172391
hg19172391
hg18172391
hg17172391
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517066
Supporting Variants
Samples
Known GenesCSAD, IGFBP6, ITGB7, MIR6757, RARG, SOAT2, SPRYD3, TENC1, ZNF740
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692890
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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