A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4380n223



Internal ID22807348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14576230..14677212hg38UCSC Ensembl
chr20:14556876..14657858hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38100983
hg19100983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6523398, nsv6527599
Samples
Known GenesMACROD2, MACROD2-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4380n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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