A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591815



Internal ID16032538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133414251..133418440hg38UCSC Ensembl
Innerchr3:133133095..133137284hg19UCSC Ensembl
Innerchr3:134615785..134619974hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg384190
hg194190
hg184190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8607n54
Supporting Variantsnssv974333, nssv974332
Samples
Known GenesBFSP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591815
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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