A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716668



Internal ID21742989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45225417..45225417hg38UCSC Ensembl
chr13:45799552..45799552hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233408, nssv17242729
Samples
Known GenesGTF2F2
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)nsv5716668
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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