A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704509



Internal ID21730830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:74719645..74719645hg38UCSC Ensembl
chr15:75011986..75011986hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219474
Samples
Known GenesCYP1A1
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)nsv5704509
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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