A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5873823



Internal ID22648771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150323124..150323221hg38UCSC Ensembl
chr1:150295574..150295674hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3898
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355396
Samples
Known GenesPRPF3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5873823
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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