A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6583n152



Internal ID22822286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49069898..49161472hg38UCSC Ensembl
chr4:49071915..49163489hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3891575
hg1991575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3209038, nsv3200062, nsv3199081, nsv3201902
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
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)dgv6583n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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