A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699262



Internal ID122928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74036993..74045584hg38UCSC Ensembl
chr14:74503696..74512287hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg388592
hg198592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505898
Supporting Variants
Samples
Known GenesCCDC176
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699262
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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