A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2248541



Internal ID17800871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:32612729..32623943hg38UCSC Ensembl
Innerchr21:33985039..33996253hg19UCSC Ensembl
Innerchr21:32906910..32918124hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3811215
hg1911215
hg1811215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979533
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2248541
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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