A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv657807



Internal ID15047773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53099603..53221209hg38UCSC Ensembl
Innerchr12:53493387..53614993hg19UCSC Ensembl
Innerchr12:51779654..51901260hg18UCSC Ensembl
Innerchr12:51779654..51901260hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38121607
hg19121607
hg18121607
hg17121607
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517066
Supporting Variants
Samples
Known GenesCSAD, IGFBP6, ITGB7, RARG, SOAT2, ZNF740
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv657807
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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