A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239205



Internal ID21686714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4225016..4225016hg38UCSC Ensembl
chr20:4205663..4205663hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724345
Supporting Variants
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)nssv17239205
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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