A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542070



Internal ID316554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8869244..8869252hg38UCSC Ensembl
chr1:8929303..8929311hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889438
Samples
Known GenesENO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542070
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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