A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443684



Internal ID222077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114294209..114297506hg38UCSC Ensembl
chr3:114013056..114016353hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg383298
hg193298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937990
Samples
Known GenesTIGIT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443684
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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