A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17355774



Internal ID22581443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168073952..168074064hg38UCSC Ensembl
chr1:168043190..168043302hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877186
Supporting Variants
Samples
Known GenesDCAF6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17355774
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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