A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519904



Internal ID15100511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46163592..46461396hg38UCSC Ensembl
Innerchr21:47583506..47881309hg19UCSC Ensembl
Innerchr21:46407934..46705737hg18UCSC Ensembl
Innerchr21:46407934..46705737hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38297805
hg19297804
hg18297804
hg17297804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694353
Samples
Known GenesC21orf58, DIP2A, LSS, MCM3AP, MCM3AP-AS1, PCNT, SPATC1L, YBEY
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519904
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