A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687709



Internal ID21714030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217937091..217937091hg38UCSC Ensembl
chr2:218801814..218801814hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223310, nssv17208749
Samples
Known GenesTNS1
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)nsv5687709
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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