A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521516



Internal ID15102123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:69035777..69035988hg38UCSC Ensembl
Innerchr2:69262909..69263120hg19UCSC Ensembl
Innerchr2:69116413..69116624hg18UCSC Ensembl
Innerchr2:69174560..69174771hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38212
hg19212
hg18212
hg17212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698133
Samples
Known GenesANTXR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521516
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