A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965991



Internal ID44652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55116904..55121346hg38UCSC Ensembl
chr5:54412732..54417174hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg384443
hg194443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462307
Supporting Variants
Samples
Known GenesCDC20B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965991
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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