A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200075



Internal ID20767115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13224401..13300000hg38UCSC Ensembl
chr1:13329902..13626393hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3875600
hg19296492
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318878
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)nssv18200075
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00295


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer