A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1943878



Internal ID17499306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104513757..104515458hg38UCSC Ensembl
Innerchr12:104907535..104909236hg19UCSC Ensembl
Innerchr12:103431665..103433366hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381702
hg191702
hg181702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975527
Supporting Variants
SamplesHGDP01029
Known GenesCHST11
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)nssv1943878
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer