A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928547



Internal ID19748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231080941..231082476hg38UCSC Ensembl
chr2:231945655..231947190hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381536
hg191536
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445664
Supporting Variants
Samples
Known GenesPSMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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