A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695716



Internal ID15432368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:193291078..194040918hg38UCSC Ensembl
Innerchr2:194155803..194905642hg19UCSC Ensembl
Innerchr2:193864048..194613887hg18UCSC Ensembl
Innerchr2:193981309..194731148hg17UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38749841
hg19749840
hg18749840
hg17749840
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518284
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695716
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer