A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146659



Internal ID19199882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9113566..9115567hg38UCSC Ensembl
Outerchr21:9952399..9954400hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg382002
hg192002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995813
SamplesKWB1
Known GenesTEKT4P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146659
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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