A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1810326



Internal ID17776856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:199386988..199388578hg38UCSC Ensembl
Innerchr1:199356116..199357706hg19UCSC Ensembl
Innerchr1:197622739..197624329hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381591
hg191591
hg181591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946572
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)nssv1810326
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