A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717321



Internal ID21743642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1548030..1548030hg38UCSC Ensembl
chr10:1590225..1590225hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243669, nssv17238831
Samples
Known GenesADARB2, ADARB2-AS1
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)nsv5717321
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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