A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2242020



Internal ID17818858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10490987..10505548hg38UCSC Ensembl
Innerchr21:11006909..11021470hg19UCSC Ensembl
Innerchr21:10028780..10043341hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3814562
hg1914562
hg1814562
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964472
Supporting Variants
SamplesHGDP00927
Known GenesBAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2242020
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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