A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719315



Internal ID21745636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60442133..60442133hg38UCSC Ensembl
chr8:61354692..61354692hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg383371
hg193371
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247737
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)nsv5719315
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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