A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712756



Internal ID21739077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24937876..24937876hg38UCSC Ensembl
chr13:25512014..25512014hg19UCSC Ensembl
Cytoband13q12.13
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 Variantsnssv17194359, nssv17219369
Samples
Known GenesTPTE2P1
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)nsv5712756
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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