A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252318



Internal ID21699827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115765892..115765892hg38UCSC Ensembl
chr12:116203697..116203697hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716995
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)nssv17252318
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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