A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697882



Internal ID121548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70326009..70326064hg38UCSC Ensembl
chr14:70792726..70792781hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144810
Supporting Variants
Samples
Known GenesCOX16, SYNJ2BP-COX16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697882
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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