A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714424



Internal ID21740745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159957525..159957525hg38UCSC Ensembl
chr5:159384532..159384532hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252145, nssv17251806
Samples
Known GenesADRA1B
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)nsv5714424
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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