A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv973530



Internal ID16267486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130413198..130413892hg38UCSC Ensembl
Innerchr3:130132042..130132736hg19UCSC Ensembl
Innerchr3:131614732..131615426hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38695
hg19695
hg18695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv591715
Supporting Variants
Samples
Known GenesCOL6A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv973530
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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