A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701418



Internal ID21727739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:99211733..99211733hg38UCSC Ensembl
chr15:99751938..99751938hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17197160
Samples
Known GenesTTC23
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)nsv5701418
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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