A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17484378



Internal ID22542286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123087946..123094652hg38UCSC Ensembl
chr3:122806793..122813499hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg386707
hg196707
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5834306
Supporting Variants
Samples
Known GenesPDIA5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17484378
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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