A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691972



Internal ID15081938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53055537..53194396hg38UCSC Ensembl
Innerchr12:53449321..53588180hg19UCSC Ensembl
Innerchr12:51735588..51874447hg18UCSC Ensembl
Innerchr12:51735588..51874447hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38138860
hg19138860
hg18138860
hg17138860
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, SOAT2, SPRYD3, TENC1, ZNF740
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691972
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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