A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587738



Internal ID16375147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44200470..44208491hg38UCSC Ensembl
Innerchr21:45620353..45628374hg19UCSC Ensembl
Innerchr21:44444781..44452802hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg388022
hg198022
hg188022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7879n54
Supporting Variantsnssv948219, nssv948220, nssv948221, nssv948218
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587738
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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