A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468345



Internal ID246143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119316449..119352595hg38UCSC Ensembl
chr5:118652144..118688290hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3836147
hg1936147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973856
Samples
Known GenesTNFAIP8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468345
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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