A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1890694



Internal ID17830043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:58004404..58007105hg38UCSC Ensembl
Innerchr11:57771876..57774577hg19UCSC Ensembl
Innerchr11:57528452..57531153hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg382702
hg192702
hg182702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972032
Supporting Variants
SamplesHGDP00998
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)nssv1890694
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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