A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691150



Internal ID21717471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82886407..82886407hg38UCSC Ensembl
chr7:82515723..82515723hg19UCSC Ensembl
Cytoband7q21.11
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 Variantsnssv17217597, nssv17182965
Samples
Known GenesPCLO
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)nsv5691150
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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