A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17354245



Internal ID22579914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129003347..129030447hg38UCSC Ensembl
chr12:129487892..129514992hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3827101
hg1927101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928708
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17354245
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01


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