A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720349



Internal ID21746670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17581480..17581480hg38UCSC Ensembl
chr17:17484794..17484794hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381141
hg191141
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234107, nssv17239969
Samples
Known GenesPEMT
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)nsv5720349
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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