A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587639



Internal ID16028362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42507410..42514553hg38UCSC Ensembl
Innerchr21:43927520..43934663hg19UCSC Ensembl
Innerchr21:42800589..42807732hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg387144
hg197144
hg187144
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7862n54
Supporting Variantsnssv947365, nssv947366
Samples
Known GenesSLC37A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587639
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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