A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056608



Internal ID18799139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46601742..46654452hg38UCSC Ensembl
Innerchr21:48021655..48074364hg19UCSC Ensembl
Innerchr21:46846083..46898792hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3852711
hg1952710
hg1852710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4446n100
Supporting Variantsnssv3600334
Samples
Known GenesPRMT2, S100B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056608
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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