A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv565n152



Internal ID22816268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220112113..220112433hg38UCSC Ensembl
chr1:220285455..220285775hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3179688, nsv3174001
SamplesNA19238, NA19239, HG00731, NA19240
Known GenesIARS2, RNU5F-1
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)dgv565n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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