A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694836



Internal ID21721157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30723616..30723616hg38UCSC Ensembl
chr12:30876550..30876550hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17192751, nssv17221767
Samples
Known GenesCAPRIN2
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)nsv5694836
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