A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727074



Internal ID21753395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200763932..200763932hg38UCSC Ensembl
chr2:201628655..201628655hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381181
hg191181
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242063, nssv17246791
Samples
Known GenesAOX2P
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)nsv5727074
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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