A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200077



Internal ID20767117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13224576..13370511hg38UCSC Ensembl
chr1:13330135..13696969hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38145936
hg19366835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326398
Supporting Variants
Samples
Known GenesPRAMEF13, PRAMEF15, PRAMEF16, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21, PRAMEF22, PRAMEF23, PRAMEF3, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200077
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.50248


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