A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243712



Internal ID21691221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70499820..70499820hg38UCSC Ensembl
chr17:68495961..68495961hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg381491
hg191491
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715974
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)nssv17243712
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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