A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501522



Internal ID278419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49581617..49582506hg38UCSC Ensembl
chr14:50048335..50049224hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38890
hg19890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696656
Samples
Known GenesRPS29
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501522
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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