A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717745



Internal ID21744066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131391345..131391345hg38UCSC Ensembl
chr5:130727038..130727038hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381126
hg191126
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240496, nssv17247540
Samples
Known GenesCDC42SE2
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)nsv5717745
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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