A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7481n152



Internal ID22823184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110970435..110970500hg38UCSC Ensembl
chr5:110306134..110306199hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3190925, nsv3198356
SamplesNA19239, 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)dgv7481n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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