A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487287



Internal ID264629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27303949..27359404hg38UCSC Ensembl
chr8:27161466..27216921hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3855456
hg1955456
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010063
Samples
Known GenesPTK2B, TRIM35
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487287
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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