A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3296057



Internal ID22388499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55530438..55530772hg38UCSC Ensembl
chr19:56041805..56042139hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4367n152
Supporting Variantsnssv14455166, nssv14432439, nssv14407026
SamplesNA19240, HG00733, HG00514
Known GenesSBK2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3296057
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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