A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520340



Internal ID15447633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228236235..228268446hg38UCSC Ensembl
Innerchr1:228423936..228456147hg19UCSC Ensembl
Innerchr1:226490559..226522770hg18UCSC Ensembl
Innerchr1:224730671..224762882hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3832212
hg1932212
hg1832212
hg1732212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697358
Samples
Known GenesOBSCN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520340
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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