A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521276



Internal ID15448569
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694429
Samples
Known GenesCACNA1D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521276
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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