A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944336



Internal ID22719799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54555234..54555327hg38UCSC Ensembl
chr12:54949018..54949111hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357365
Samples
Known GenesPDE1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944336
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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