A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703642



Internal ID21729963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130980099..130980099hg38UCSC Ensembl
chr12:131464644..131464644hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213382, nssv17194345
Samples
Known GenesGPR133
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5703642
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