A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378525



Internal ID22436395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50030369..50030489hg38UCSC Ensembl
chr18:47556739..47556859hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932894
Supporting Variants
Samples
Known GenesMYO5B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378525
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007


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