A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694390



Internal ID21720711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:99678069..99678069hg38UCSC Ensembl
chr10:101437826..101437826hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214707, nssv17189304
Samples
Known GenesENTPD7
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)nsv5694390
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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