A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587465



Internal ID16374874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36118357..36231355hg38UCSC Ensembl
Innerchr21:37490655..37603653hg19UCSC Ensembl
Innerchr21:36412525..36525523hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38112999
hg19112999
hg18112999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7832n54
Supporting Variantsnssv1151617
Samples1780862261_A
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587465
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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