A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16937092



Internal ID25444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100393687..100393725hg38UCSC Ensembl
chr3:100112531..100112569hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547673
Supporting Variants
Samples
Known GenesTOMM70A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16937092
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007805


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