A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506818



Internal ID283553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52234106..52256106hg38UCSC Ensembl
chr13:52808241..52830241hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3822001
hg1922001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687780
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506818
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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