A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241559



Internal ID21689068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119083832..119083832hg38UCSC Ensembl
chr8:120096071..120096071hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg381751
hg191751
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714657
Supporting Variants
Samples
Known GenesCOLEC10
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)nssv17241559
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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