A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393089



Internal ID22450959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218460130..218461375hg38UCSC Ensembl
chr2:219324853..219326098hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381246
hg191246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5905933
Supporting Variants
Samples
Known GenesUSP37
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393089
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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