A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467454



Internal ID245266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:3167173..3167224hg38UCSC Ensembl
chr5:3167287..3167338hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16963555
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467454
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer