A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv215n152



Internal ID22815918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52444906..52444958hg38UCSC Ensembl
chr1:52910578..52910630hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3196866, nsv3192706
SamplesNA19238, NA19239, NA19240
Known GenesZCCHC11
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)dgv215n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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