A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242490



Internal ID21689999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192169482..192169482hg38UCSC Ensembl
chr1:192138612..192138612hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723741
Supporting Variants
Samples
Known GenesRGS18
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)nssv17242490
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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