A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150852



Internal ID19197313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:21592510..21594411hg38UCSC Ensembl
Outerchr22:21946799..21948700hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996325
SamplesKWB1
Known GenesUBE2L3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150852
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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