A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467181



Internal ID244999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180415324..180420862hg38UCSC Ensembl
chr5:179842324..179847862hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385539
hg195539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977778
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467181
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