A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480601



Internal ID258105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73978358..73978675hg38UCSC Ensembl
chr8:74890593..74890910hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012126
Samples
Known GenesTMEM70
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480601
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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