A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429760



Internal ID208596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76750117..76750207hg38UCSC Ensembl
chr1:77215802..77215892hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904416
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429760
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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