A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587353



Internal ID16374762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:29917613..30181095hg38UCSC Ensembl
Innerchr21:31289931..31553413hg19UCSC Ensembl
Innerchr21:30211802..30475284hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38263483
hg19263483
hg18263483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151609
SamplesHGDP01185
Known GenesCLDN17, GRIK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587353
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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