A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591819



Internal ID16032542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133415190..133418440hg38UCSC Ensembl
Innerchr3:133134034..133137284hg19UCSC Ensembl
Innerchr3:134616724..134619974hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg383251
hg193251
hg183251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv974345
Samples
Known GenesBFSP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591819
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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