A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717396



Internal ID21743717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75705806..75705806hg38UCSC Ensembl
chr13:76279942..76279942hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248999, nssv17235078
Samples
Known GenesLMO7
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)nsv5717396
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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