A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234555



Internal ID21682064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198850703..198850703hg38UCSC Ensembl
chr1:198819832..198819832hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722067
Supporting Variants
Samples
Known GenesMIR181A1HG
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)nssv17234555
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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