A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396450



Internal ID22454320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176043316..176059621hg38UCSC Ensembl
chr2:176908044..176924349hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3816306
hg1916306
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901598
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396450
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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