A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520780



Internal ID15101387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2143993..2235830hg38UCSC Ensembl
Innerchr4:2145720..2237557hg19UCSC Ensembl
Innerchr4:2115518..2207355hg18UCSC Ensembl
Innerchr4:2112951..2204788hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3891838
hg1991838
hg1891838
hg1791838
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697605
Samples
Known GenesHAUS3, POLN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520780
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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