A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5922767



Internal ID22697992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22912130..22912615hg38UCSC Ensembl
chr8:22769643..22770128hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17447994
Samples
Known GenesPEBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5922767
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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