A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690481



Internal ID21716802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121460705..121460705hg38UCSC Ensembl
chr2:122218281..122218281hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17212989
Samples
Known GenesCLASP1
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)nsv5690481
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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