A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5986783



Internal ID21896126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178432256..178436145hg38UCSC Ensembl
chr2:179296983..179300872hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg383890
hg193890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518472
Samples
Known GenesMIR548N, PRKRA
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5986783
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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