A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2409672



Internal ID17786359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:49348809..49358624hg38UCSC Ensembl
Innerchr6:49316485..49326297hg19UCSC Ensembl
Innerchr6:49424444..49434256hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg389816
hg199813
hg189813
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965724
Supporting Variants
SamplesHGDP00665
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)nssv2409672
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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