A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715051



Internal ID21741372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111859339..111859339hg38UCSC Ensembl
chr11:111730062..111730062hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251910
Samples
Known GenesALG9
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)nsv5715051
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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