A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234114



Internal ID21681623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169397143..169397143hg38UCSC Ensembl
chr1:169366381..169366381hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38721
hg19721
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718035
Supporting Variants
Samples
Known GenesCCDC181
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)nssv17234114
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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