A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714720



Internal ID21741041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63177169..63177169hg38UCSC Ensembl
chr1:63642840..63642840hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381491
hg191491
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246273
Samples
Known GenesLINC00466
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)nsv5714720
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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