A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4841n71



Internal ID6322461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19675944..19814714hg19UCSC Ensembl
chr22:18055944..18194714hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnsv914281, nsv914287
SamplesIS33504, IS39233
Known GenesGNB1L, GP1BB, SEPT5, SEPT5-GP1BB, TBX1
Method
Analysis
Platform
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)dgv4841n71
Frequency
Sample Size6533
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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