A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17204581



Internal ID21652090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:79790978..79790978hg38UCSC Ensembl
chrX:79046475..79046475hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722712
Supporting Variants
Samples
Known Genes
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)nssv17204581
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