A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061638



Internal ID18804169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46565742..46668351hg38UCSC Ensembl
Innerchr21:47985655..48088263hg19UCSC Ensembl
Innerchr21:46810083..46912691hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38102610
hg19102609
hg18102609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4442n100
Supporting Variantsnssv3600324
Samples
Known GenesDIP2A, PRMT2, S100B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061638
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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