A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506036



Internal ID282791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41354668..41354723hg38UCSC Ensembl
chr13:41928804..41928859hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687153
Samples
Known GenesNAA16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506036
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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