A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697578



Internal ID21723899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:33133584..33133584hg38UCSC Ensembl
chr15:33425785..33425785hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17196724
Samples
Known GenesFMN1
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)nsv5697578
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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