A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv451n152



Internal ID22816154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165761972..165762262hg38UCSC Ensembl
chr1:165731209..165731499hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3199698, nsv3282082
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTMCO1
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)dgv451n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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