A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143020



Internal ID18924269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45109268..45109324hg38UCSC Ensembl
Outerchr21:46529183..46529239hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979787
SamplesKWS2
Known GenesADARB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143020
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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