A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717901



Internal ID21744222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48409559..48409559hg38UCSC Ensembl
chr15:48701756..48701756hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234037
Samples
Known GenesFBN1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5717901
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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