A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996878



Internal ID18846265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49900951..49903252hg38UCSC Ensembl
Outerchr22:50294599..50296900hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg382302
hg192302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152272
Supporting Variants
SamplesKWB1
Known GenesALG12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996878
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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