A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407127



Internal ID186462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:110114784..110114835hg38UCSC Ensembl
chr4:111035940..111035991hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16954939
Samples
Known GenesELOVL6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407127
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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