A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245548



Internal ID21693057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149094481..149094481hg38UCSC Ensembl
chr3:148812268..148812268hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719376
Supporting Variants
Samples
Known GenesHLTF-AS1
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)nssv17245548
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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