A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708740



Internal ID21735061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102254791..102254791hg38UCSC Ensembl
chr10:104014548..104014548hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17189325, nssv17222883
Samples
Known GenesGBF1
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)nsv5708740
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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