A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972913



Internal ID49312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124850482..124851615hg38UCSC Ensembl
chr5:124186175..124187308hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381134
hg191134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462674
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972913
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002185


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