A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558227



Internal ID331298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52327394..52327445hg38UCSC Ensembl
chr15:52619591..52619642hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17702756
Samples
Known GenesMYO5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558227
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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