A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2566048



Internal ID17527586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114882297..114883655hg38UCSC Ensembl
Innerchr9:117644577..117645935hg19UCSC Ensembl
Innerchr9:116684398..116685756hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg381359
hg191359
hg181359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982340
Supporting Variants
SamplesHGDP01284
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)nssv2566048
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