A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699842



Internal ID21726163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:76783519..76783519hg38UCSC Ensembl
chr13:77357654..77357654hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194991, nssv17217320
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)nsv5699842
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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