A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17189093



Internal ID21636602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77422275..77422275hg38UCSC Ensembl
chr10:79182033..79182033hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5698010
Supporting Variants
Samples
Known GenesKCNMA1
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)nssv17189093
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer