A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482437



Internal ID259895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30063915..30065986hg38UCSC Ensembl
chr8:29921431..29923502hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382072
hg192072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009278
Samples
Known GenesMIR548O2, TMEM66
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482437
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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