A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484081



Internal ID261502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30794454..30794508hg38UCSC Ensembl
chr8:30651970..30652024hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011242
Samples
Known GenesPPP2CB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484081
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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