A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583188



Internal ID16370597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:140134274..140225349hg38UCSC Ensembl
Innerchr2:140891843..140982918hg19UCSC Ensembl
Innerchr2:140608313..140699388hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3891076
hg1991076
hg1891076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920112
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583188
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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