A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200115



Internal ID20767155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13744801..13749100hg38UCSC Ensembl
chr1:14071296..14075595hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg384300
hg194300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6329332
Supporting Variants
Samples
Known GenesPRDM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200115
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00066


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