A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691474



Internal ID21717795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215706279..215706279hg38UCSC Ensembl
chr2:216571002..216571002hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17208731, nssv17222878
Samples
Known GenesLINC00607
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)nsv5691474
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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