A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv205n152



Internal ID22815908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46240200..46242963hg38UCSC Ensembl
chr1:46705872..46708635hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382764
hg192764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3195304, nsv3279871
SamplesNA19238, NA19239, NA19240
Known Genes
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)dgv205n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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