A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476096



Internal ID253716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30065996..30066776hg38UCSC Ensembl
chr8:29923512..29924292hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009280
Samples
Known GenesMIR548O2, TMEM66
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476096
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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