A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171483



Internal ID22331314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59078581..59078888hg38UCSC Ensembl
chr14:59545299..59545606hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2629n152
Supporting Variantsnssv14466832
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3171483
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