A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583610



Internal ID16024333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:170712123..170717019hg38UCSC Ensembl
Innerchr2:171568633..171573529hg19UCSC Ensembl
Innerchr2:171276879..171281775hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384897
hg194897
hg184897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7158n54
Supporting Variantsnssv925288, nssv925287
Samples
Known GenesLINC01124, SP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583610
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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