A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184989



Internal ID20752029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52113443..52139857hg38UCSC Ensembl
chr12:52507227..52533641hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3826415
hg1926415
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6469059
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184989
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