A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723354



Internal ID21749675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63821050..63821050hg38UCSC Ensembl
chr11:63588522..63588522hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246015
Samples
Known GenesC11orf84
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)nsv5723354
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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