A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973225



Internal ID49538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126513659..126526375hg38UCSC Ensembl
chr5:125849351..125862067hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3812717
hg1912717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454163
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973225
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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