A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944634



Internal ID30431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:198199450..198230074hg38UCSC Ensembl
chr3:197926321..197956945hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3830625
hg1930625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139274
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944634
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002591


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