A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16936597



Internal ID25120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122931344..122940504hg38UCSC Ensembl
chr3:122650191..122659351hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg389161
hg199161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434863
Supporting Variants
Samples
Known GenesSEMA5B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16936597
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer