A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1711n223



Internal ID22804679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121668491..121690378hg38UCSC Ensembl
chr12:122106397..122128284hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3821888
hg1921888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6487169, nsv6490826, nsv6479386
Samples
Known GenesMORN3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1711n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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