A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17381289



Internal ID22439159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32109769..32116291hg38UCSC Ensembl
chr1:32575370..32581892hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg386523
hg196523
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877012
Supporting Variants
Samples
Known GenesKPNA6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17381289
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004


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