A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924014



Internal ID16762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226776678..226782820hg38UCSC Ensembl
chr2:227641394..227647536hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg386143
hg196143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450106
Supporting Variants
Samples
Known GenesIRS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924014
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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