A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719056



Internal ID21745377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58551554..58551554hg38UCSC Ensembl
chr5:57847381..57847381hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234183
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)nsv5719056
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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