A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5408763



Internal ID188086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:10740400..10740451hg38UCSC Ensembl
chr8:10597910..10597961hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17007416
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5408763
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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