A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13693576



Internal ID21215426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2682851..2682851hg38UCSC Ensembl
chr12:2792017..2792017hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381456
hg191456
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2792398
Supporting Variants
Samples
Known GenesCACNA1C, CACNA1C-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13693576
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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