A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696312



Internal ID21722633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:10002311..10002311hg38UCSC Ensembl
chr11:10023858..10023858hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217018, nssv17189500
Samples
Known GenesSBF2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5696312
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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