A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5908612



Internal ID22683822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86897282..86898439hg38UCSC Ensembl
chr8:87909510..87910667hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381158
hg191158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435031
Samples
Known GenesCNBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5908612
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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