A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475706



Internal ID21133259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45376510..45381599hg38UCSC Ensembl
chr13:45950645..45955734hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg385090
hg195090
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1817n223
Supporting Variantsnssv18190189
Samples
Known GenesTPT1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475706
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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