A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942542



Internal ID22717981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102004345..102074477hg38UCSC Ensembl
chr13:102656695..102726827hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3870133
hg1970133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364664
Samples
Known GenesFGF14, MIR4705
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942542
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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