A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486305



Internal ID263674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143335028..143429075hg38UCSC Ensembl
chr8:144417198..144511245hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3894048
hg1994048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017670
Samples
Known GenesMAFA, RHPN1, RHPN1-AS1, TOP1MT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486305
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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