A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1817n223



Internal ID22804785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45376510..45383400hg38UCSC Ensembl
chr13:45950645..45957535hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg386891
hg196891
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6477089, nsv6475706, nsv6476279, nsv6495161
Samples
Known GenesTPT1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1817n223
Frequency
Sample Size19652
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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