A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1893033



Internal ID17764045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:70274243..70279166hg38UCSC Ensembl
Innerchr11:70120349..70125272hg19UCSC Ensembl
Innerchr11:69797997..69802920hg18UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg384924
hg194924
hg184924
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975199
Supporting Variants
SamplesHGDP00542
Known GenesPPFIA1
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)nssv1893033
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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