A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692244



Internal ID21718565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:91271478..91271478hg38UCSC Ensembl
chr7:90900793..90900793hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221071
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)nsv5692244
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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