A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238280



Internal ID21685789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56070144..56070144hg38UCSC Ensembl
chr1:56535817..56535817hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717325
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)nssv17238280
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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