A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966001



Internal ID44656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55246910..55251434hg38UCSC Ensembl
chr5:54542738..54547262hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg384525
hg194525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458200
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966001
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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