A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445664



Internal ID224010
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 StatusM
Merged Variants
Supporting Variantsnssv16928547
Samples
Known GenesPSMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445664
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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