A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429448



Internal ID208296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52416495..52416546hg38UCSC Ensembl
chr13:52990630..52990681hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687800
Samples
Known GenesVPS36
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429448
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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