A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591723



Internal ID16032446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130458896..130520880hg38UCSC Ensembl
Innerchr3:130177740..130239724hg19UCSC Ensembl
Innerchr3:131660430..131722414hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3861985
hg1961985
hg1861985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151798
SamplesHGDP00088
Known GenesCOL6A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591723
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