A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv214n152



Internal ID22815917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51580893..51580954hg38UCSC Ensembl
chr1:52046565..52046626hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3280195, nsv3524970
SamplesHG00512, HG00514
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)dgv214n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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