A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494296



Internal ID271447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:33640895..33640971hg38UCSC Ensembl
chr14:34110101..34110177hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695840
Samples
Known GenesNPAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494296
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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