A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196673



Internal ID20763713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2935994..2946538hg38UCSC Ensembl
chr12:3045160..3055704hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3810545
hg1910545
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465376
Supporting Variants
Samples
Known GenesTULP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196673
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