A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246228



Internal ID21693737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60551096..60551096hg38UCSC Ensembl
chr17:58628457..58628457hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381331
hg191331
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5731030
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)nssv17246228
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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