A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7532n152



Internal ID22823235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134831692..134831809hg38UCSC Ensembl
chr5:134167382..134167499hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3206270, nsv3209663
SamplesNA19238, NA19239, NA19240
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)dgv7532n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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