A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587019



Internal ID16374428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13733164..13843493hg38UCSC Ensembl
Innerchr21:15105485..15215814hg19UCSC Ensembl
Innerchr21:14027356..14137685hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38110330
hg19110330
hg18110330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152397
SamplesHGDP00513
Known GenesC21orf15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587019
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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