A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504829



Internal ID281623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73949384..73951523hg38UCSC Ensembl
chr14:74416087..74418226hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg382140
hg192140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699254
Samples
Known GenesCOQ6, FAM161B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504829
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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