A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118667



Internal ID19278738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8673467..8676567hg38UCSC Ensembl
Outerchr21:9562300..9565400hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg383101
hg193101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959181
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118667
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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