A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726119



Internal ID21752440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178593499..178593499hg38UCSC Ensembl
chr1:178562634..178562634hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245763
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)nsv5726119
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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