A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv505n223



Internal ID22803473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197639001..197668800hg38UCSC Ensembl
chr1:197608131..197637930hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3829800
hg1929800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6327461, nsv6321071
Samples
Known GenesDENND1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv505n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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