A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1941101



Internal ID17416489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93409500..93411232hg38UCSC Ensembl
Innerchr12:93803276..93805008hg19UCSC Ensembl
Innerchr12:92327407..92329139hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381733
hg191733
hg181733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983353
Supporting Variants
SamplesHGDP00542
Known GenesUBE2N
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)nssv1941101
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