A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17038483



Internal ID93384
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 StatusS
Merged Variantsnsv5486048
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17038483
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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