A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728493



Internal ID21754814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48806595..48806595hg38UCSC Ensembl
chr17:46883957..46883957hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243678, nssv17243001
Samples
Known GenesTTLL6
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)nsv5728493
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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