A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697831



Internal ID15087797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53799482..53847444hg38UCSC Ensembl
Innerchr3:53833509..53881471hg19UCSC Ensembl
Innerchr3:53808549..53856511hg18UCSC Ensembl
Innerchr3:53808549..53856511hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3847963
hg1947963
hg1847963
hg1747963
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521181
Supporting Variants
Samples
Known GenesCACNA1D, CHDH, IL17RB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697831
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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