A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975279



Internal ID50907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159171531..159172186hg38UCSC Ensembl
chr5:158598539..158599194hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465145
Supporting Variants
Samples
Known GenesRNF145
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975279
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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