A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455166



Internal ID22249601
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 StatusS
Merged Variantsnsv3296057
Supporting Variants
SamplesHG00733
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)nssv14455166
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