A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587145



Internal ID16374554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18685601..18702936hg38UCSC Ensembl
Innerchr21:20057919..20075254hg19UCSC Ensembl
Innerchr21:18979790..18997125hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3817336
hg1917336
hg1817336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7782n54
Supporting Variantsnssv946143
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587145
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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