A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486048



Internal ID263423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:100586205..100592934hg38UCSC Ensembl
chr10:102345962..102352691hg19UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg386730
hg196730
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17038483
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486048
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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