A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509021



Internal ID285691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90310521..90313129hg38UCSC Ensembl
chr14:90776865..90779473hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg382609
hg192609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697186
Samples
Known GenesNRDE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509021
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