A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001368



Internal ID19193689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:15347263..15447664hg38UCSC Ensembl
Outerchr22:16530299..16630700hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38100402
hg19100402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153448
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001368
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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