A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433628



Internal ID212335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89864535..89864601hg38UCSC Ensembl
chr1:90330094..90330160hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908285
Samples
Known GenesLRRC8D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433628
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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