A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2120256



Internal ID17781780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:26251764..26265278hg38UCSC Ensembl
Innerchr18:23831728..23845242hg19UCSC Ensembl
Innerchr18:22085726..22099240hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3813515
hg1913515
hg1813515
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961038
Supporting Variants
SamplesHGDP00665
Known GenesTAF4B
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)nssv2120256
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