A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2241846



Internal ID17488431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10414518..10443917hg38UCSC Ensembl
Innerchr21:11068540..11097939hg19UCSC Ensembl
Innerchr21:10090411..10119810hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3829400
hg1929400
hg1829400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv979515
Supporting Variants
SamplesHGDP00998
Known GenesBAGE, BAGE2, 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)nssv2241846
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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