A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2228302



Internal ID17886210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1161228..1162342hg38UCSC Ensembl
Innerchr20:1141872..1142986hg19UCSC Ensembl
Innerchr20:1089872..1090986hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381115
hg191115
hg181115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964368
Supporting Variants
SamplesHGDP01307
Known GenesPSMF1
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)nssv2228302
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