A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251520



Internal ID21699029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151593232..151593232hg38UCSC Ensembl
chr5:150972793..150972793hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725735
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)nssv17251520
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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