A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715684



Internal ID21742005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124751441..124751441hg38UCSC Ensembl
chr10:126440010..126440010hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381683
hg191683
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236212, nssv17244493
Samples
Known Genes
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)nsv5715684
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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