A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468540



Internal ID246336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127228371..127231362hg38UCSC Ensembl
chr4:128149526..128152517hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg382992
hg192992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16955251
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468540
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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