A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720428



Internal ID21746749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31535621..31535621hg38UCSC Ensembl
chr6:31503398..31503398hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251574
Samples
Known GenesATP6V1G2-DDX39B, DDX39B
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)nsv5720428
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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