A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv418n152



Internal ID22816121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151847197..151847271hg38UCSC Ensembl
chr1:151819673..151819747hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3281067, nsv3282949
SamplesNA19240, HG00514
Known GenesTHEM5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv418n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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