A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1811452



Internal ID17735266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201516460..201530833hg38UCSC Ensembl
Innerchr1:201485588..201499961hg19UCSC Ensembl
Innerchr1:199752211..199766584hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3814374
hg1914374
hg1814374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946575
Supporting Variants
SamplesHGDP00456
Known GenesRPS10P7
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)nssv1811452
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