A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250198



Internal ID21697707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48181287..48181287hg38UCSC Ensembl
chr4:48183304..48183304hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715204
Supporting Variants
Samples
Known GenesTEC
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)nssv17250198
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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