A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694625



Internal ID15084591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:51052256..51210278hg38UCSC Ensembl
Innerchr2:51279394..51437416hg19UCSC Ensembl
Innerchr2:51132898..51290920hg18UCSC Ensembl
Innerchr2:51191045..51349067hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38158023
hg19158023
hg18158023
hg17158023
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521850
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694625
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