A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194729



Internal ID20761769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49130401..49131800hg38UCSC Ensembl
chr12:49524184..49525583hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6455783
Supporting Variants
Samples
Known GenesTUBA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194729
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00017


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