A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506722



Internal ID283459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57763387..57763503hg38UCSC Ensembl
chr14:58230105..58230221hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694921
Samples
Known GenesSLC35F4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506722
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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