A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1538n223



Internal ID22804506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48701642..48702823hg38UCSC Ensembl
chr12:49095425..49096606hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381182
hg191182
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6593006, nsv6581027
Samples
Known GenesCCNT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1538n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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