A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5459558



Internal ID237570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116448309..116448443hg38UCSC Ensembl
chr5:115784005..115784139hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973782
Samples
Known GenesSEMA6A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5459558
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