A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209154



Internal ID20776194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28749501..28755400hg38UCSC Ensembl
chr2:28972367..28978266hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg385900
hg195900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6340077
Supporting Variants
Samples
Known GenesPPP1CB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209154
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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