A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968958



Internal ID22743893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66406585..66406585hg38UCSC Ensembl
chr17:64402703..64402703hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371263
Samples
Known GenesPRKCA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968958
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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