A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696763



Internal ID15433415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:77256672..77293048hg38UCSC Ensembl
Innerchr12:77650452..77686828hg19UCSC Ensembl
Innerchr12:76174583..76210959hg18UCSC Ensembl
Innerchr12:76152920..76189296hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3836377
hg1936377
hg1836377
hg1736377
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519280
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696763
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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