A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587776



Internal ID16028499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44297614..44300641hg38UCSC Ensembl
Innerchr21:45717497..45720524hg19UCSC Ensembl
Innerchr21:44541925..44544952hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383028
hg193028
hg183028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7886n54
Supporting Variantsnssv948317
Samples
Known GenesAIRE, PFKL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587776
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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