A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593173



Internal ID16380582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:198035752..198107320hg38UCSC Ensembl
Innerchr3:197762623..197834191hg19UCSC Ensembl
Innerchr3:199247020..199318588hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3871569
hg1971569
hg1871569
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8869n54
Supporting Variantsnssv987329
Samples
Known GenesANKRD18DP, LMLN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593173
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