A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715175



Internal ID21741496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:77756633..77756633hg38UCSC Ensembl
chr4:78677787..78677787hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237406, nssv17235746
Samples
Known GenesCNOT6L
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)nsv5715175
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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