A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200097



Internal ID20767137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13330001..13384000hg38UCSC Ensembl
chr1:13656407..13710460hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3854000
hg1954054
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6334762
Supporting Variants
Samples
Known GenesPRAMEF18, PRAMEF19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200097
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00054


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