A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996325



Internal ID19190449
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 StatusS
Merged Variantsnsv1150852
Supporting Variants
SamplesKWB1
Known GenesUBE2L3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996325
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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