A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237977



Internal ID21685486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55048133..55048133hg38UCSC Ensembl
chr12:55441917..55441917hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383153
hg193153
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717592
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)nssv17237977
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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