A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv177n223



Internal ID22803145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45472050..45481258hg38UCSC Ensembl
chr1:45937722..45946930hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg389209
hg199209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6327078, nsv6331224
Samples
Known GenesTESK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv177n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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