A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591712



Internal ID16379121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130413146..130414002hg38UCSC Ensembl
Innerchr3:130131990..130132846hg19UCSC Ensembl
Innerchr3:131614680..131615536hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38857
hg19857
hg18857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8589n54
Supporting Variantsnssv973522
Samples
Known GenesCOL6A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591712
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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