A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583743



Internal ID16371152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178193987..178194931hg38UCSC Ensembl
Innerchr2:179058714..179059658hg19UCSC Ensembl
Innerchr2:178766960..178767904hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38945
hg19945
hg18945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7186n54
Supporting Variantsnssv927187, nssv927186, nssv927185, nssv927184
Samples
Known GenesOSBPL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583743
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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