A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6048n223



Internal ID22809016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5130201..5459724hg38UCSC Ensembl
chr6:5130435..5459957hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38329524
hg19329523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6395634, nsv6397456
Samples
Known GenesFARS2, LYRM4, MIR3691
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv6048n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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