A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695945



Internal ID21722266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:97285774..97285774hg38UCSC Ensembl
chr13:97938028..97938028hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194654
Samples
Known GenesMBNL2
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)nsv5695945
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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