A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680707



Internal ID21707028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50744441..50744441hg38UCSC Ensembl
chr6:50712154..50712154hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17215283, nssv17178839
Samples
Known GenesTFAP2D
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)nsv5680707
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