A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv209n152



Internal ID22815912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48227176..48227569hg38UCSC Ensembl
chr1:48692848..48693241hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3205725, nsv3198270
SamplesHG00513, HG00514
Known GenesSLC5A9
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)dgv209n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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