A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490898



Internal ID268147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124357035..124364933hg38UCSC Ensembl
chr8:125369276..125377174hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg387899
hg197899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017098
Samples
Known GenesTMEM65
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490898
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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