A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708466



Internal ID21734787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73640568..73640568hg38UCSC Ensembl
chr10:75400326..75400326hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188203
Samples
Known GenesMYOZ1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5708466
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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