A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695880



Internal ID119546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58415559..58415603hg38UCSC Ensembl
chr14:58882277..58882321hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544107
Supporting Variants
Samples
Known GenesTIMM9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695880
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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