A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698156



Internal ID21724477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61417046..61417046hg38UCSC Ensembl
chr11:61184518..61184518hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191745
Samples
Known GenesCPSF7
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)nsv5698156
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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