A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593153



Internal ID16033876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197308114..197607658hg38UCSC Ensembl
Innerchr3:197034985..197334529hg19UCSC Ensembl
Innerchr3:198519382..198818926hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38299545
hg19299545
hg18299545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8863n54
Supporting Variantsnssv1153422
SamplesHGDP00966
Known GenesBDH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593153
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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