A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118676



Internal ID18916221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10324357..10492757hg38UCSC Ensembl
Outerchr21:11019700..11188100hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38168401
hg19168401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2349n106
Supporting Variantsnssv3959190
SamplesKWS1
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118676
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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