A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235912



Internal ID21683421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219562281..219562281hg38UCSC Ensembl
chr1:219735623..219735623hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725052
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)nssv17235912
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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