A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4310n152



Internal ID22820013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50053383..50134307hg38UCSC Ensembl
chr19:50556640..50637564hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3880925
hg1980925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3215850, nsv3221529
SamplesNA19239, HG00732, HG00733
Known GenesFLJ26850, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4310n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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