A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691872



Internal ID21718193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61515959..61515959hg38UCSC Ensembl
chr2:61743094..61743094hg19UCSC Ensembl
Cytoband2p15
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 Variantsnssv17208148
Samples
Known GenesXPO1
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)nsv5691872
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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