A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv974278



Internal ID15921548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133414251..133418172hg38UCSC Ensembl
Innerchr3:133133095..133137016hg19UCSC Ensembl
Innerchr3:134615785..134619706hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg383922
hg193922
hg183922
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv591814
Supporting Variants
Samples
Known GenesBFSP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv974278
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer