A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720768



Internal ID21747089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35757776..35757776hg38UCSC Ensembl
chr17:34084795..34084795hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238618, nssv17243078
Samples
Known Genes
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)nsv5720768
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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