A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5587287



Internal ID21535847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41281062..41281407hg38UCSC Ensembl
chr12:41674864..41675209hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17087659
SamplesNA12329
Known GenesPDZRN4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5587287
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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