A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707976



Internal ID21734297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53269028..53269028hg38UCSC Ensembl
chr20:51885567..51885567hg19UCSC Ensembl
Cytoband20q13.2
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 Variantsnssv17226021, nssv17202996
Samples
Known GenesTSHZ2
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)nsv5707976
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