A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583675



Internal ID16371084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176399835..176406392hg38UCSC Ensembl
Innerchr2:177264563..177271120hg19UCSC Ensembl
Innerchr2:176972809..176979366hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386558
hg196558
hg186558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7174n54
Supporting Variantsnssv925617
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583675
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