A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698301



Internal ID121967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73559713..73611713hg38UCSC Ensembl
chr14:74026417..74078417hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3852001
hg1952001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145417
Supporting Variants
Samples
Known GenesACOT2, ACOT4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698301
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000314


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