A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500402



Internal ID277338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14849000..14883500hg38UCSC Ensembl
chr11:14870546..14905046hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg3834501
hg1934501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17041432
Samples
Known GenesCYP2R1, PDE3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500402
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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