A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887603



Internal ID22662596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40768082..40768204hg38UCSC Ensembl
chr5:40768184..40768306hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17418312
Samples
Known GenesPRKAA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887603
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