A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463129



Internal ID241043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116078982..116381117hg38UCSC Ensembl
chr5:115414679..115716814hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38302136
hg19302136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973737
Samples
Known GenesCOMMD10, LOC101927190
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463129
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