A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7400n152



Internal ID22823103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79352143..79352486hg38UCSC Ensembl
chr5:78647966..78648309hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3201149, nsv3525655
SamplesNA19238, NA19239, HG00731, 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)dgv7400n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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