A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726660



Internal ID21752981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28566826..28566826hg38UCSC Ensembl
chr8:28424343..28424343hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250050
Samples
Known GenesFZD3
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)nsv5726660
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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