A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722730



Internal ID21749051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21578016..21578016hg38UCSC Ensembl
chr5:21578125..21578125hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg382659
hg192659
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238186
Samples
Known GenesGUSBP1
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)nsv5722730
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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