A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2568424



Internal ID17525225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:127446981..127450055hg38UCSC Ensembl
Innerchr9:130209260..130212334hg19UCSC Ensembl
Innerchr9:129249081..129252155hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg383075
hg193075
hg183075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972452
Supporting Variants
SamplesHGDP01284
Known GenesRPL12, SNORA65
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)nssv2568424
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