A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973764



Internal ID49896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116251807..116257000hg38UCSC Ensembl
chr5:115587504..115592697hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg385194
hg195194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463942
Supporting Variants
Samples
Known GenesCOMMD10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973764
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000317


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