A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973857



Internal ID49949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119344249..119349452hg38UCSC Ensembl
chr5:118679944..118685147hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg385204
hg195204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462602
Supporting Variants
Samples
Known GenesTNFAIP8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973857
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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