A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1697n223



Internal ID22804665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112485767..112487318hg38UCSC Ensembl
chr12:112923571..112925122hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381552
hg191552
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6592481, nsv6582461
Samples
Known GenesPTPN11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1697n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer