A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240798



Internal ID21688307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163238512..163238512hg38UCSC Ensembl
chr1:163208302..163208302hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382203
hg192203
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721058
Supporting Variants
Samples
Known GenesRGS5
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)nssv17240798
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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