A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692647



Internal ID21718968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:88090579..88090579hg38UCSC Ensembl
chr3:88139729..88139729hg19UCSC Ensembl
Cytoband3p11.1
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 Variantsnssv17210672, nssv17215430
Samples
Known GenesCGGBP1
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)nsv5692647
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