A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926057



Internal ID18113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222894668..222894719hg38UCSC Ensembl
chr2:223759386..223759437hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557487
Supporting Variants
Samples
Known GenesACSL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16926057
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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