A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7213n152



Internal ID22822916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16624238..16624316hg38UCSC Ensembl
chr5:16624347..16624425hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3282510, nsv3282634
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7213n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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