A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508048



Internal ID284748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101211505..101216064hg38UCSC Ensembl
chr14:101677842..101682401hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg384560
hg194560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698838
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508048
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