A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178201



Internal ID22334857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59148390..59148724hg38UCSC Ensembl
chr20:57723445..57723779hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5326n152
Supporting Variantsnssv14408492
SamplesNA19240
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)nsv3178201
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