A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944892



Internal ID30595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188999500..189014200hg38UCSC Ensembl
chr3:188717289..188731989hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3814701
hg1914701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450464
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944892
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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