A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498698



Internal ID275683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73703463..73708844hg38UCSC Ensembl
chr14:74170166..74175547hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg385382
hg195382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698310
Samples
Known GenesDNAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498698
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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