A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5455474



Internal ID233553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9512783..9514372hg38UCSC Ensembl
chr5:9512895..9514484hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381590
hg191590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16963711
Samples
Known GenesSEMA5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5455474
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