A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587814



Internal ID16375223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44863754..44891349hg38UCSC Ensembl
Innerchr21:46283669..46311264hg19UCSC Ensembl
Innerchr21:45108097..45135692hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3827596
hg1927596
hg1827596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151414, nssv1151413
SamplesHGDP00968, HGDP00951
Known GenesITGB2, PTTG1IP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587814
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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