A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3300718



Internal ID22389127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46389363..46389421hg38UCSC Ensembl
chr19:46892620..46892678hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4290n152
Supporting Variantsnssv14460119
SamplesHG00733
Known GenesPPP5C
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)nsv3300718
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