A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395418



Internal ID22453288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62127815..62154615hg38UCSC Ensembl
chr2:62354950..62381750hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3826801
hg1926801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5869334
Supporting Variants
Samples
Known GenesCOMMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395418
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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