A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429068



Internal ID207925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:109175795..109175795hg38UCSC Ensembl
chr13:109828143..109828143hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694610
Samples
Known GenesMYO16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429068
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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