A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252900



Internal ID21700409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149880552..149880552hg38UCSC Ensembl
chr5:149260115..149260115hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730829
Supporting Variants
Samples
Known GenesPDE6A
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)nssv17252900
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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