A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698063



Internal ID15088029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70620399..70653709hg38UCSC Ensembl
Innerchr2:70847531..70880841hg19UCSC Ensembl
Innerchr2:70701039..70734349hg18UCSC Ensembl
Innerchr2:70759186..70792496hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3833311
hg1933311
hg1833311
hg1733311
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521452
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698063
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