A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714334



Internal ID21740655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77130630..77130630hg38UCSC Ensembl
chr5:76426455..76426455hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239443, nssv17236472
Samples
Known GenesZBED3-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)nsv5714334
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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