A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2242192



Internal ID17864140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10455554..10466101hg38UCSC Ensembl
Innerchr21:11046356..11056903hg19UCSC Ensembl
Innerchr21:10068227..10078774hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3810548
hg1910548
hg1810548
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv965965
Supporting Variants
SamplesHGDP01284
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)nssv2242192
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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