A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721372



Internal ID21747693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240291151..240291151hg38UCSC Ensembl
chr1:240454451..240454451hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383507
hg193507
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240050
Samples
Known GenesFMN2
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)nsv5721372
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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