A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000041



Internal ID16946307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10324357..10426456hg38UCSC Ensembl
Outerchr21:11086001..11188100hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38102100
hg19102100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953332
Supporting Variants
SamplesBILGI_BIOE
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000041
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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