A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450362



Internal ID228570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173920765..173933770hg38UCSC Ensembl
chr2:174785493..174798498hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3813006
hg1913006
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927307
Samples
Known GenesSP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450362
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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