A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504928



Internal ID281720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57750091..57750143hg38UCSC Ensembl
chr14:58216809..58216861hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694920
Samples
Known GenesSLC35F4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504928
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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