A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481809



Internal ID259277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72738640..72742703hg38UCSC Ensembl
chr8:73650875..73654938hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg384064
hg194064
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011087
Samples
Known GenesKCNB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481809
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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