A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726274



Internal ID21752595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28402468..28402468hg38UCSC Ensembl
chr6:28370245..28370245hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234477
Samples
Known Genes
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)nsv5726274
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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