A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251680



Internal ID21699189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14144691..14144691hg38UCSC Ensembl
chr1:14471186..14471186hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716038
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)nssv17251680
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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