A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829154



Internal ID6134244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29617485..29724001hg19UCSC Ensembl
Innerchr22:27947485..28054001hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1422864
SamplesNA18969
Known GenesAP1B1, EMID1, EWSR1, GAS2L1, RASL10A, RHBDD3
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformAgilent 24M aCGH
Comments
ReferencePark_et_al_2010
Pubmed ID20364138
Accession Number(s)nsv829154
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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