A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17353766



Internal ID22579435
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 StatusS
Merged Variantsnsv5945427
Supporting Variants
Samples
Known GenesCHST11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17353766
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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