A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2394429



Internal ID17811425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:17318353..17336912hg38UCSC Ensembl
Innerchr6:17318584..17337143hg19UCSC Ensembl
Innerchr6:17426563..17445122hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3818560
hg1918560
hg1818560
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981106
Supporting Variants
SamplesHGDP00927
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)nssv2394429
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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