A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944471



Internal ID30322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194001880..194001976hg38UCSC Ensembl
chr3:193719669..193719765hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437677
Supporting Variants
Samples
Known GenesLOC647323
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944471
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010625


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