A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587717



Internal ID16028440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43756077..43771258hg38UCSC Ensembl
Innerchr21:45175958..45191139hg19UCSC Ensembl
Innerchr21:44000386..44015567hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3815182
hg1915182
hg1815182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151411
SamplesHGDP00607
Known GenesPDXK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587717
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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