A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16931641



Internal ID21832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43700652..43700740hg38UCSC Ensembl
chr3:43742144..43742232hg19UCSC Ensembl
Cytoband3p21.33
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553420
Supporting Variants
Samples
Known GenesABHD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16931641
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001561


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