A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453319



Internal ID231445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113539574..113545574hg38UCSC Ensembl
chr3:113258421..113264421hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938390
Samples
Known GenesSIDT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453319
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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