A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16929486



Internal ID20384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12998990..13008225hg38UCSC Ensembl
chr3:13040490..13049725hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg389236
hg199236
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438636
Supporting Variants
Samples
Known GenesIQSEC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16929486
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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