A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203892



Internal ID21651401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:50380732..50380732hg38UCSC Ensembl
chrX:50123730..50123730hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718313
Supporting Variants
Samples
Known GenesDGKK
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)nssv17203892
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