A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252838



Internal ID21700347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70187940..70187940hg38UCSC Ensembl
chr12:70581720..70581720hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727582
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)nssv17252838
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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