A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14369526



Internal ID22193345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59078586..59078887hg38UCSC Ensembl
chr14:59545304..59545605hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521092
Supporting Variants
SamplesHG00731
Known Genes
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)nssv14369526
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