A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1904159



Internal ID17745164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:108690205..108690811hg38UCSC Ensembl
Innerchr11:108560932..108561538hg19UCSC Ensembl
Innerchr11:108066142..108066748hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38607
hg19607
hg18607
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972070
Supporting Variants
SamplesHGDP00521
Known GenesDDX10
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)nssv1904159
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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