A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725174



Internal ID21751495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58582049..58582049hg38UCSC Ensembl
chr1:59047721..59047721hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236727
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)nsv5725174
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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