A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2513143



Internal ID17784821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:89412607..89417145hg38UCSC Ensembl
Innerchr8:90424836..90429374hg19UCSC Ensembl
Innerchr8:90493952..90498490hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg384539
hg194539
hg184539
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967615
Supporting Variants
SamplesHGDP00665
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)nssv2513143
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