A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512410



Internal ID288964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68054053..68082179hg38UCSC Ensembl
chr13:68628185..68656311hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3828127
hg1928127
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691716
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512410
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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