A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714478



Internal ID21740799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:110881716..110881716hg38UCSC Ensembl
chr10:112641474..112641474hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237513, nssv17236909
Samples
Known GenesPDCD4
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5714478
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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