A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694429



Internal ID15431081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53724296..53725694hg38UCSC Ensembl
Innerchr3:53758323..53759721hg19UCSC Ensembl
Innerchr3:53733363..53734761hg18UCSC Ensembl
Innerchr3:53733363..53734761hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
hg171399
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521276
Supporting Variants
Samples
Known GenesCACNA1D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694429
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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