A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393751



Internal ID22451621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2989347..2991278hg38UCSC Ensembl
chr20:2969993..2971924hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381932
hg191932
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932681
Supporting Variants
Samples
Known GenesPTPRA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393751
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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