A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247383



Internal ID21694892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185115816..185115816hg38UCSC Ensembl
chr4:186036970..186036970hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg385808
hg195808
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728482
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)nssv17247383
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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