A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17354193



Internal ID22579862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41078571..41089295hg38UCSC Ensembl
chr12:41472373..41483097hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3810725
hg1910725
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5935880
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17354193
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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