A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552403



Internal ID325762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168879799..168879816hg38UCSC Ensembl
chr1:168849037..168849054hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891853
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552403
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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