A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696839



Internal ID15086805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207221990..207238328hg38UCSC Ensembl
Innerchr2:208086714..208103052hg19UCSC Ensembl
Innerchr2:207794959..207811297hg18UCSC Ensembl
Innerchr2:207912220..207928558hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3816339
hg1916339
hg1816339
hg1716339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519412
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696839
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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