A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513192



Internal ID289723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33871383..33879863hg38UCSC Ensembl
chr13:34445520..34454000hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg388481
hg198481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686787
Samples
Known GenesRFC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513192
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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