A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067039



Internal ID18809570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36128176..36244890hg38UCSC Ensembl
Innerchr21:37500474..37617188hg19UCSC Ensembl
Innerchr21:36422344..36539058hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38116715
hg19116715
hg18116715
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4427n100
Supporting Variantsnssv3600184, nssv3600185, nssv3600183
Samples
Known GenesCBR3, CBR3-AS1, DOPEY2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067039
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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