A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203597



Internal ID20770637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32134157..32142156hg38UCSC Ensembl
chr1:32599758..32607757hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323458
Supporting Variants
Samples
Known GenesKPNA6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203597
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00066


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