A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387037



Internal ID22444907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10814145..10866460hg38UCSC Ensembl
chr18:10814143..10866458hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3852316
hg1952316
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5939358
Supporting Variants
Samples
Known GenesPIEZO2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387037
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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