A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244430



Internal ID21691939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:111931492..111931492hg38UCSC Ensembl
chr8:112943721..112943721hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg381105
hg191105
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729038
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)nssv17244430
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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