A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245880



Internal ID21693389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:35948553..35948553hg38UCSC Ensembl
chr4:35950175..35950175hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719890
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)nssv17245880
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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