A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246115



Internal ID21693624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126759577..126759577hg38UCSC Ensembl
chr8:127771822..127771822hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg385998
hg195998
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727310
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)nssv17246115
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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