A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454506



Internal ID232605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:138927381..138933381hg38UCSC Ensembl
chr4:139848535..139854535hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16957499
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454506
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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