A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587637



Internal ID16028360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42507410..42514398hg38UCSC Ensembl
Innerchr21:43927520..43934508hg19UCSC Ensembl
Innerchr21:42800589..42807577hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386989
hg196989
hg186989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7861n54
Supporting Variantsnssv947360, nssv947361, nssv947362
Samples
Known GenesSLC37A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587637
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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