A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247540



Internal ID21695049
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 StatusS
Merged Variantsnsv5717745
Supporting Variants
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)nssv17247540
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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