A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6008385



Internal ID21917728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100232700..100233350hg38UCSC Ensembl
chr8:101244928..101245578hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38651
hg19651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17578757
Samples
Known GenesSPAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6008385
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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