A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462149



Internal ID240082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160000688..160003418hg38UCSC Ensembl
chr5:159427695..159430425hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382731
hg192731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975978
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462149
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