A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519761



Internal ID15447054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47918983..48020962hg38UCSC Ensembl
Innerchr2:48146122..48248101hg19UCSC Ensembl
Innerchr2:47999626..48101605hg18UCSC Ensembl
Innerchr2:48057773..48159752hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38101980
hg19101980
hg18101980
hg17101980
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv685873, nssv694427, nssv658329
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519761
Frequency
Sample Size2026
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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