A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203378



Internal ID21650887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71186484..71186484hg38UCSC Ensembl
chrX:70406334..70406334hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719945
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)nssv17203378
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