A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1718n223



Internal ID22804686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122466101..122472387hg38UCSC Ensembl
chr12:122950648..122956934hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386287
hg196287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6495580, nsv6483142
Samples
Known GenesZCCHC8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1718n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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