A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699475



Internal ID21725796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78179997..78179997hg38UCSC Ensembl
chr11:77891043..77891043hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191760
Samples
Known GenesKCTD21
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)nsv5699475
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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