A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1933909



Internal ID17830993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58243950..58245787hg38UCSC Ensembl
Innerchr12:58637733..58639570hg19UCSC Ensembl
Innerchr12:56924000..56925837hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381838
hg191838
hg181838
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973078
Supporting Variants
SamplesHGDP00998
Known Genes
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)nssv1933909
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