A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17355396



Internal ID22581065
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 StatusS
Merged Variantsnsv5873823
Supporting Variants
Samples
Known GenesPRPF3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17355396
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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