A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724345



Internal ID21750666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4225016..4225016hg38UCSC Ensembl
chr20:4205663..4205663hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239205, nssv17235989
Samples
Known GenesADRA1D
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)nsv5724345
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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