A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518454



Internal ID15099061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:30842336..30927564hg38UCSC Ensembl
Innerchr21:32214655..32299883hg19UCSC Ensembl
Innerchr21:31136526..31221754hg18UCSC Ensembl
Innerchr21:31136526..31221754hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3885229
hg1985229
hg1885229
hg1785229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694238
Samples
Known GenesKRTAP11-1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518454
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