A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252435



Internal ID21699944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138030664..138030664hg38UCSC Ensembl
chr5:137366353..137366353hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725831
Supporting Variants
Samples
Known GenesFAM13B
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)nssv17252435
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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