A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478927



Internal ID256470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:44137266..44137383hg38UCSC Ensembl
chr10:44632714..44632831hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17034938
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478927
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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