A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv504n152



Internal ID22816207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190203750..190203802hg38UCSC Ensembl
chr1:190172880..190172932hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3525515, nsv3199070
SamplesHG00731, HG00733
Known GenesBRINP3
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)dgv504n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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