A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385504



Internal ID22443374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21822053..21827014hg38UCSC Ensembl
chr18:19402014..19406975hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg384962
hg194962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5937759
Supporting Variants
Samples
Known GenesMIB1, MIR133A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385504
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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