A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243741



Internal ID21691250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102082250..102082250hg38UCSC Ensembl
chr8:103094478..103094478hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg386002
hg196002
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720526
Supporting Variants
Samples
Known GenesNCALD
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)nssv17243741
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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