A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238971



Internal ID21686480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3260546..3260546hg38UCSC Ensembl
chr4:3262273..3262273hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714758
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)nssv17238971
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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