A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1892416



Internal ID17415345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:59477533..59479704hg38UCSC Ensembl
Innerchr11:59245006..59247177hg19UCSC Ensembl
Innerchr11:59001582..59003753hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg382172
hg192172
hg182172
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983027
Supporting Variants
SamplesHGDP00542
Known GenesOR4D10
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)nssv1892416
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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