A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948529



Internal ID15895799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45160455..45419989hg38UCSC Ensembl
Innerchr21:46580370..46839904hg19UCSC Ensembl
Innerchr21:45404798..45664332hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38259535
hg19259535
hg18259535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587840
Supporting Variants
Samples
Known GenesADARB1, COL18A1, COL18A1-AS1, COL18A1-AS2, LINC00316, LOC642852, POFUT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv948529
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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