A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587719



Internal ID16028442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43798559..43849960hg38UCSC Ensembl
Innerchr21:45218440..45269841hg19UCSC Ensembl
Innerchr21:44042868..44094269hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3851402
hg1951402
hg1851402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv948045
Samples
Known GenesLOC284837, RRP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587719
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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