A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2115428



Internal ID17852570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5221541..5233164hg38UCSC Ensembl
Innerchr18:5221540..5233163hg19UCSC Ensembl
Innerchr18:5211540..5223163hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3811624
hg1911624
hg1811624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960647
Supporting Variants
SamplesHGDP01029
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)nssv2115428
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