A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236244



Internal ID21683753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67132423..67132423hg38UCSC Ensembl
chr5:66428251..66428251hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381671
hg191671
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714956
Supporting Variants
Samples
Known GenesMAST4
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)nssv17236244
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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