A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201020



Internal ID20768060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17267301..17295000hg38UCSC Ensembl
chr1:17593796..17621495hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3827700
hg1927700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6320298
Supporting Variants
Samples
Known GenesPADI3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201020
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00328


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