A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17356841



Internal ID22582510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229453222..229453403hg38UCSC Ensembl
chr1:229588969..229589150hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5876505
Supporting Variants
Samples
Known GenesNUP133
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17356841
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.017


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