A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681023



Internal ID21707344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:91202612..91202612hg38UCSC Ensembl
chr7:90831927..90831927hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17182969
Samples
Known GenesCDK14
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)nsv5681023
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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