A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979779



Internal ID18885172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10432744..10432812hg38UCSC Ensembl
Outerchr21:11079645..11079713hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143010
Supporting Variants
SamplesKWS2
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979779
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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