A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945184



Internal ID22720658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:5583463..5583616hg38UCSC Ensembl
chr20:5564109..5564262hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390408
Samples
Known GenesGPCPD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945184
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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