A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453465



Internal ID231586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130457041..130533135hg38UCSC Ensembl
chr3:130175885..130251979hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3876095
hg1976095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939231
Samples
Known GenesCOL6A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453465
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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