A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587698



Internal ID16028421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43551697..43555248hg38UCSC Ensembl
Innerchr21:44971578..44975129hg19UCSC Ensembl
Innerchr21:43796006..43799557hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383552
hg193552
hg183552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7873n54
Supporting Variantsnssv948014
Samples
Known GenesHSF2BP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587698
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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