A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251574



Internal ID21699083
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 StatusS
Merged Variantsnsv5720428
Supporting Variants
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)nssv17251574
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer