A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714879



Internal ID21741200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:90971197..90971197hg38UCSC Ensembl
chr10:92730954..92730954hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg382457
hg192457
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249829, nssv17241950
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)nsv5714879
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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