A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704254



Internal ID21730575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:63287366..63287366hg38UCSC Ensembl
chr15:63579565..63579565hg19UCSC Ensembl
Cytoband15q22.2
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 Variantsnssv17225500, nssv17197118
Samples
Known GenesAPH1B
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)nsv5704254
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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