A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978110



Internal ID19237510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46685288..46698688hg38UCSC Ensembl
Outerchr21:48105200..48118600hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3813401
hg1913401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139773
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978110
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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