A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944613



Internal ID30416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196258700..196279981hg38UCSC Ensembl
chr3:195985571..196006852hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3821282
hg1921282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440711
Supporting Variants
Samples
Known GenesPCYT1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944613
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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