A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17995700



Internal ID20562740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104336913..104338669hg38UCSC Ensembl
chr12:104730691..104732447hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381757
hg191757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472050
Supporting Variants
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17995700
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0152


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