A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520191



Internal ID15100798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9261182..9336601hg38UCSC Ensembl
Innerchr1:9321241..9396660hg19UCSC Ensembl
Innerchr1:9243828..9319247hg18UCSC Ensembl
Innerchr1:9255507..9330926hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3875420
hg1975420
hg1875420
hg1775420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696393, nssv687341, nssv662674, nssv688630, nssv661584
Samples
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520191
Frequency
Sample Size2026
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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