A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720745



Internal ID21747066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28826384..28826384hg38UCSC Ensembl
chr17:27153402..27153402hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38380
hg19380
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241756
Samples
Known GenesFAM222B
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)nsv5720745
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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