A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447163



Internal ID225474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189861900..189861963hg38UCSC Ensembl
chr2:190726626..190726689hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923453
Samples
Known GenesPMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447163
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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