A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692506



Internal ID21718827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:113202251..113202251hg38UCSC Ensembl
chr7:112842306..112842306hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225460, nssv17183674
Samples
Known Genes
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)nsv5692506
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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