A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17372784



Internal ID22598453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56818091..56818628hg38UCSC Ensembl
chr14:57284809..57285346hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5941015
Supporting Variants
Samples
Known GenesOTX2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17372784
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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