A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234190



Internal ID21681699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40547528..40547528hg38UCSC Ensembl
chr5:40547630..40547630hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38988
hg19988
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728580
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)nssv17234190
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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