A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520027



Internal ID15447320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53728686..53750598hg38UCSC Ensembl
Innerchr3:53762713..53784625hg19UCSC Ensembl
Innerchr3:53737753..53759665hg18UCSC Ensembl
Innerchr3:53737753..53759665hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3821913
hg1921913
hg1821913
hg1721913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697185
Samples
Known GenesCACNA1D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520027
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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