A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17440330



Internal ID22498200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122820722..122861228hg38UCSC Ensembl
chr9:125583001..125623507hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3840507
hg1940507
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5909122
Supporting Variants
Samples
Known GenesPDCL, RC3H2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17440330
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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