A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490065



Internal ID267328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:57729858..57733698hg38UCSC Ensembl
chr8:58642417..58646257hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg383841
hg193841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012769
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490065
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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