A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6423116



Internal ID21080669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100212801..100213500hg38UCSC Ensembl
chr8:101225029..101225728hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18161338
Samples
Known GenesSPAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6423116
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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