A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504475



Internal ID281276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74053659..74063437hg38UCSC Ensembl
chr14:74520362..74530140hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg389779
hg199779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699264
Samples
Known GenesALDH6A1, CCDC176
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504475
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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