A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945427



Internal ID22720904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104693850..104720248hg38UCSC Ensembl
chr12:105087628..105114026hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3826399
hg1926399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353766
Samples
Known GenesCHST11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945427
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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