A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv914288



Internal ID6276215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19713604..19910716hg19UCSC Ensembl
Outerchr22:19698129..19914854hg19UCSC Ensembl
Innerchr22:18093604..18290716hg18UCSC Ensembl
Outerchr22:18078129..18294854hg18UCSC 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 Variantsnssv1531044
SamplesMS10311
Known GenesC22orf29, GNB1L, GP1BB, SEPT5, SEPT5-GP1BB, TBX1, TXNRD2
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv914288
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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