A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500131



Internal ID277073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:38454860..38516077hg38UCSC Ensembl
chr14:38924064..38985281hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3861218
hg1961218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697005
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500131
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