A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478494



Internal ID256047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6225437..7016330hg38UCSC Ensembl
chr8:6082958..6873852hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38790894
hg19790895
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17008612
Samples
Known GenesAGPAT5, ANGPT2, DEFA1, DEFA10P, DEFA1B, DEFA3, DEFA4, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFT1P, DEFT1P2, LOC100287015, LOC100652791, MCPH1, MIR4659A, MIR4659B, MIR8055, XKR5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478494
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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