A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705590



Internal ID21731911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:68990912..68990912hg38UCSC Ensembl
chr10:70750668..70750668hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188637, nssv17216537
Samples
Known GenesKIAA1279
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)nsv5705590
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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