A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1942985



Internal ID17827603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104264356..104270794hg38UCSC Ensembl
Innerchr12:104658134..104664572hg19UCSC Ensembl
Innerchr12:103182264..103188702hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg386439
hg196439
hg186439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983360
Supporting Variants
SamplesHGDP00998
Known GenesTXNRD1
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)nssv1942985
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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