A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186116



Internal ID20753156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2030701..2064100hg38UCSC Ensembl
chr12:2139867..2173266hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3833400
hg1933400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6469563
Supporting Variants
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186116
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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