A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv218n152



Internal ID22815921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53173414..53173487hg38UCSC Ensembl
chr1:53639086..53639159hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3202416, nsv3201982
SamplesNA19240
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)dgv218n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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