A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193136



Internal ID20760176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47026501..47040800hg38UCSC Ensembl
chr11:47048052..47062351hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3814300
hg1914300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471274
Supporting Variants
Samples
Known GenesC11orf49
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193136
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00012


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