A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926418



Internal ID18336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237339346..237339520hg38UCSC Ensembl
chr2:238247989..238248163hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437199
Supporting Variants
Samples
Known GenesCOL6A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16926418
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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