A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583740



Internal ID16371149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178193954..178194872hg38UCSC Ensembl
Innerchr2:179058681..179059599hg19UCSC Ensembl
Innerchr2:178766927..178767845hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38919
hg19919
hg18919
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7186n54
Supporting Variantsnssv927181
Samples
Known GenesOSBPL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583740
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