A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507330



Internal ID284054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:60621538..60669526hg38UCSC Ensembl
chr13:61195672..61243660hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3847989
hg1947989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688280
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507330
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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