A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510972



Internal ID287578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49813920..49813986hg38UCSC Ensembl
chr13:50388056..50388122hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687662
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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