A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592951



Internal ID16380360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193419471..193424553hg38UCSC Ensembl
Innerchr3:193137260..193142342hg19UCSC Ensembl
Innerchr3:194619954..194625036hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg385083
hg195083
hg185083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8818n54
Supporting Variantsnssv985730
Samples
Known GenesATP13A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592951
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