A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2407399



Internal ID17433195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43534507..43544104hg38UCSC Ensembl
Innerchr6:43502244..43511841hg19UCSC Ensembl
Innerchr6:43610222..43619819hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg389598
hg199598
hg189598
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981139
Supporting Variants
SamplesHGDP00665
Known GenesXPO5
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)nssv2407399
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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