A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14350027



Internal ID22262075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:22346966..22346966hg38UCSC Ensembl
chrX:22365083..22365083hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565774
Supporting Variants
SamplesNA19238
Known GenesLOC100873065
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14350027
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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