A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520050



Internal ID15447343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:139329749..139330023hg38UCSC Ensembl
Innerchr2:140087319..140087593hg19UCSC Ensembl
Innerchr2:139803789..139804063hg18UCSC Ensembl
Innerchr2:139921051..139921325hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
hg17275
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697196
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520050
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