A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696439



Internal ID120105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70642075..70642126hg38UCSC Ensembl
chr14:71108792..71108843hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506017
Supporting Variants
Samples
Known GenesTTC9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696439
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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