A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924759



Internal ID17251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207372479..207372659hg38UCSC Ensembl
chr2:208237203..208237383hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442833
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924759
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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