A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2248682



Internal ID17730472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39127163..39128361hg38UCSC Ensembl
Innerchr21:40499089..40500287hg19UCSC Ensembl
Innerchr21:39420959..39422157hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979536
Supporting Variants
SamplesHGDP00456
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)nssv2248682
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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