A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5913640



Internal ID22688856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12481744..12484180hg38UCSC Ensembl
chr12:12634678..12637114hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382437
hg192437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351358
Samples
Known GenesDUSP16
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5913640
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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