A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501345



Internal ID278244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59204273..59204382hg38UCSC Ensembl
chr13:59778407..59778516hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688215
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501345
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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