A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247197



Internal ID21694706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60369590..60369590hg38UCSC Ensembl
chr2:60596725..60596725hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715459
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)nssv17247197
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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