A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694683



Internal ID15431335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:114531958..114564141hg38UCSC Ensembl
Innerchr12:114969763..115001946hg19UCSC Ensembl
Innerchr12:113454146..113486329hg18UCSC Ensembl
Innerchr12:113432483..113464666hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3832184
hg1932184
hg1832184
hg1732184
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521912
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694683
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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