A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694518



Internal ID15431170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:84043498..84103179hg38UCSC Ensembl
Innerchr2:84270622..84330303hg19UCSC Ensembl
Innerchr2:84124133..84183814hg18UCSC Ensembl
Innerchr2:84182280..84241961hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3859682
hg1959682
hg1859682
hg1759682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521750
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694518
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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