A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1914066



Internal ID17389972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11021169..11032136hg38UCSC Ensembl
Innerchr12:11173768..11184735hg19UCSC Ensembl
Innerchr12:11065035..11076002hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3810968
hg1910968
hg1810968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973027
Supporting Variants
SamplesHGDP00456
Known GenesPRH1-PRR4, TAS2R19, TAS2R31
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)nssv1914066
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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