A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17221973



Internal ID21669482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153991227..153991227hg38UCSC Ensembl
chrX:153256678..153256678hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724599
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)nssv17221973
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