A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712874



Internal ID21739195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:91090359..91090359hg38UCSC Ensembl
chr13:91742613..91742613hg19UCSC Ensembl
Cytoband13q31.3
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 Variantsnssv17195319, nssv17230891
Samples
Known GenesLINC00380
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)nsv5712874
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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