A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699282



Internal ID15435934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3133343..3148695hg38UCSC Ensembl
Innerchr2:3137115..3152466hg19UCSC Ensembl
Innerchr2:3116122..3131473hg18UCSC Ensembl
Innerchr2:4675398..4690749hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3815353
hg1915352
hg1815352
hg1715352
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523510
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699282
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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