A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541128



Internal ID315771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231093063..231093063hg38UCSC Ensembl
chr1:231228809..231228809hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896922
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541128
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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