A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2791186



Internal ID21236525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131918761..131918761hg38UCSC Ensembl
chr12:132403306..132403306hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38494
hg19494
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13680664
Samples
Known GenesULK1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2791186
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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