A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2949n152



Internal ID22818652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:60516171..60516237hg38UCSC Ensembl
chr15:60808370..60808436hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3283843, nsv3211449
SamplesNA19238, HG00732, NA19240
Known GenesRORA
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2949n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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