A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695878



Internal ID119544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58394746..58402406hg38UCSC Ensembl
chr14:58861464..58869124hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg387661
hg197661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145270
Supporting Variants
Samples
Known GenesTOMM20L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695878
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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