A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706942



Internal ID21733263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77045962..77045962hg38UCSC Ensembl
chr10:78805720..78805720hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17189092, nssv17227449
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)nsv5706942
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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