A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2112565



Internal ID17862768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:16279..87956hg38UCSC Ensembl
Innerchr18:16279..87956hg19UCSC Ensembl
Innerchr18:6279..77956hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3871678
hg1971678
hg1871678
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962479
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)nssv2112565
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