A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246092



Internal ID21693601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58256262..58256262hg38UCSC Ensembl
chr8:59168821..59168821hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg383678
hg193678
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726460
Supporting Variants
Samples
Known GenesLOC101929528
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)nssv17246092
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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