A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384598



Internal ID22442468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77385450..77392774hg38UCSC Ensembl
chr14:77851793..77859117hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg387325
hg197325
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930884
Supporting Variants
Samples
Known GenesSAMD15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384598
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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