A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398768



Internal ID178163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101096447..101096498hg38UCSC Ensembl
chr1:101562003..101562054hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907119
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398768
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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