A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715716



Internal ID21742037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19512668..19512668hg38UCSC Ensembl
chr16:19523990..19523990hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245103, nssv17250181
Samples
Known GenesGDE1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5715716
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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