A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982504



Internal ID21891847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202408992..202409475hg38UCSC Ensembl
chr1:202378120..202378603hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532862
Samples
Known GenesPPP1R12B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982504
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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