A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14363901



Internal ID22255322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42277506..42277821hg38UCSC Ensembl
chr1:42743177..42743492hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523146
Supporting Variants
SamplesNA19238
Known GenesFOXJ3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14363901
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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