A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581296



Internal ID16022019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32999606..33001303hg38UCSC Ensembl
Innerchr2:33224673..33226370hg19UCSC Ensembl
Innerchr2:33078177..33079874hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381698
hg191698
hg181698
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6751n54
Supporting Variantsnssv904864, nssv904861, nssv904866, nssv904860, nssv904863, nssv904859, nssv904868, nssv904862, nssv904867, nssv904865
Samples
Known GenesLTBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581296
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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