A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713789



Internal ID21740110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:13435184..13435184hg38UCSC Ensembl
chr11:13456731..13456731hg19UCSC Ensembl
Cytoband11p15.2
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 Variantsnssv17190357
Samples
Known GenesBTBD10
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)nsv5713789
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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