A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251020



Internal ID21698529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:44258206..44258206hg38UCSC Ensembl
chr15:44550404..44550404hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38678
hg19678
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720847
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)nssv17251020
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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