A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507495



Internal ID284212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22850340..22858861hg38UCSC Ensembl
chr14:23319549..23328070hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg388522
hg198522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693934
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507495
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer