A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900137



Internal ID22675277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79021602..79055992hg38UCSC Ensembl
chr5:78317425..78351815hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3834391
hg1934391
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17416393
Samples
Known GenesDMGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900137
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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