A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1752879



Internal ID17761145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11232137..11233792hg38UCSC Ensembl
Innerchr1:11292194..11293849hg19UCSC Ensembl
Innerchr1:11214781..11216436hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381656
hg191656
hg181656
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945769
Supporting Variants
SamplesHGDP00542
Known GenesMTOR
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)nssv1752879
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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