A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434180



Internal ID212862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130623042..130636687hg38UCSC Ensembl
chr3:130341886..130355531hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3813646
hg1913646
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939245
Samples
Known GenesCOL6A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434180
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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