A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431614



Internal ID210386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75608610..75913087hg38UCSC Ensembl
chr1:76074295..76378772hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38304478
hg19304478
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907408
Samples
Known GenesACADM, MSH4, RABGGTB, SLC44A5, SNORD45A, SNORD45B, SNORD45C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431614
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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