A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242649



Internal ID21690158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56909432..56909432hg38UCSC Ensembl
chr12:57303216..57303216hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719634
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)nssv17242649
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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