A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5491545



Internal ID268780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61984701..61987756hg38UCSC Ensembl
chr8:62897260..62900315hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg383056
hg193056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011727
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5491545
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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