A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714333



Internal ID21740654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109067724..109067724hg38UCSC Ensembl
chr12:109505529..109505529hg19UCSC Ensembl
Cytoband12q24.11
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 Variantsnssv17245518, nssv17237182
Samples
Known GenesUSP30
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)nsv5714333
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