A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591719



Internal ID16379128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130413198..130414299hg38UCSC Ensembl
Innerchr3:130132042..130133143hg19UCSC Ensembl
Innerchr3:131614732..131615833hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381102
hg191102
hg181102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv973598, nssv973597
Samples
Known GenesCOL6A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591719
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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