A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246559



Internal ID21694068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167609042..167609042hg38UCSC Ensembl
chr1:167578279..167578279hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38773
hg19773
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720604
Supporting Variants
Samples
Known Genes
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)nssv17246559
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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