A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928455



Internal ID19678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226143825..226143828hg38UCSC Ensembl
chr2:227008541..227008544hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545833
Supporting Variants
Samples
Known GenesLOC646736
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928455
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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