A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17186208



Internal ID21633717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123251498..123251498hg38UCSC Ensembl
chr8:124263738..124263738hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5704831
Supporting Variants
Samples
Known GenesZHX1, ZHX1-C8ORF76
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)nssv17186208
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer