A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700383



Internal ID21726704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82229628..82229628hg38UCSC Ensembl
chr12:82623407..82623407hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193216, nssv17220038
Samples
Known Genes
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)nsv5700383
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