A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451054



Internal ID229242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190396382..190433672hg38UCSC Ensembl
chr3:190114171..190151461hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3837291
hg1937291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16944420
Samples
Known GenesCLDN16, TMEM207
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451054
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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