A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934469



Internal ID22709796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74269352..74269415hg38UCSC Ensembl
chr18:71936587..71936650hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405619
Samples
Known GenesCYB5A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934469
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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