A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717937



Internal ID21744258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77291980..77291980hg38UCSC Ensembl
chr5:76587805..76587805hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381297
hg191297
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250476
Samples
Known GenesPDE8B
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)nsv5717937
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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