A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110383



Internal ID19274559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42628690..42629990hg38UCSC Ensembl
Outerchr21:44048800..44050100hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960034
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110383
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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