A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722394



Internal ID21748715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76132636..76132636hg38UCSC Ensembl
chr11:75843680..75843680hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg381288
hg191288
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238068, nssv17236718
Samples
Known GenesUVRAG
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)nsv5722394
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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