A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519191



Internal ID15446484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:97479736..97535305hg38UCSC Ensembl
Innerchr1:97945292..98000861hg19UCSC Ensembl
Innerchr1:97717880..97773449hg18UCSC Ensembl
Innerchr1:97657313..97712882hg17UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3855570
hg1955570
hg1855570
hg1755570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696674
Samples
Known GenesDPYD
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519191
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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