A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000433



Internal ID20567473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45931136..45931553hg38UCSC Ensembl
chr12:46324919..46325336hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457956
Supporting Variants
Samples
Known GenesSCAF11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000433
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00121


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