A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516011



Internal ID15443068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:136822664..136989767hg38UCSC Ensembl
Innerchr2:137580234..137747337hg19UCSC Ensembl
Innerchr2:137296704..137463807hg18UCSC Ensembl
Innerchr2:137413966..137581069hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38167104
hg19167104
hg18167104
hg17167104
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv665706, nssv655425, nssv658298
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516011
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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