A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2242111



Internal ID17835615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10472362..10476992hg38UCSC Ensembl
Innerchr21:11035465..11040095hg19UCSC Ensembl
Innerchr21:10057336..10061966hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg384631
hg194631
hg184631
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv965963
Supporting Variants
SamplesHGDP00998
Known GenesBAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2242111
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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