A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7564n152



Internal ID22823267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150366628..150366955hg38UCSC Ensembl
chr5:149746191..149746518hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3177053, nsv3523394
SamplesNA19239, HG00732, NA19240, HG00513, HG00514
Known GenesTCOF1
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)dgv7564n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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