A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2803173



Internal ID21248511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64012575..64012575hg38UCSC Ensembl
chr20:62643928..62643928hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13679669
Samples
Known GenesPRPF6
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2803173
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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