A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv671712



Internal ID15061678
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519815
Supporting Variants
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)nssv671712
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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