A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv828943



Internal ID6134033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19708273..19785073hg19UCSC Ensembl
Innerchr22:18088273..18165073hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1435610
SamplesNA18942
Known GenesGNB1L, GP1BB, SEPT5, SEPT5-GP1BB, TBX1
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformAgilent 24M aCGH
Comments
ReferencePark_et_al_2010
Pubmed ID20364138
Accession Number(s)nsv828943
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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