A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452170



Internal ID230331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:17591371..17593827hg38UCSC Ensembl
chr4:17592994..17595450hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg382457
hg192457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16948293
Samples
Known GenesLAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452170
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