A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240998



Internal ID21688507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174382771..174382771hg38UCSC Ensembl
chr4:175303922..175303922hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724340
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)nssv17240998
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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