A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378897



Internal ID22436767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53985048..53986962hg38UCSC Ensembl
chr14:54451766..54453680hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg381915
hg191915
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5927895
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378897
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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