A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1700n223



Internal ID22804668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114460295..114463865hg38UCSC Ensembl
chr12:114898100..114901670hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg383571
hg193571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6490273, nsv6487634
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1700n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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