A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704778



Internal ID21731099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40919294..40919294hg38UCSC Ensembl
chr13:41493430..41493430hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230710
Samples
Known GenesSUGT1P3, TPTE2P5
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)nsv5704778
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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