A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717996



Internal ID21744317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:16667573..16667573hg38UCSC Ensembl
chr10:16709572..16709572hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245756, nssv17252905
Samples
Known GenesRSU1
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)nsv5717996
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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