A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248880



Internal ID21696389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:6953759..6953759hg38UCSC Ensembl
chr10:6995721..6995721hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722759
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)nssv17248880
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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