A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694787



Internal ID21721108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73240854..73240854hg38UCSC Ensembl
chr10:75000612..75000612hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230067, nssv17188198
Samples
Known GenesFAM149B1
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)nsv5694787
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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