A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471859



Internal ID249586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133424630..133426224hg38UCSC Ensembl
chr6:133745768..133747362hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381595
hg191595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969508
Samples
Known GenesEYA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471859
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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