A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1933641



Internal ID17417807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56663007..56664811hg38UCSC Ensembl
Innerchr12:57056791..57058595hg19UCSC Ensembl
Innerchr12:55343058..55344862hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381805
hg191805
hg181805
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976628
Supporting Variants
SamplesHGDP00542
Known GenesPTGES3
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)nssv1933641
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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