A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519815



Internal ID15100422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233740214..233749977hg38UCSC Ensembl
Innerchr2:234648860..234658623hg19UCSC Ensembl
Innerchr2:234313599..234323362hg18UCSC Ensembl
Innerchr2:234430860..234440623hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg389764
hg199764
hg189764
hg179764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv671712, nssv660895, nssv690450, nssv658879
Samples
Known GenesDNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519815
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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