A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2120049



Internal ID17380708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:26159853..26171267hg38UCSC Ensembl
Innerchr18:23739817..23751231hg19UCSC Ensembl
Innerchr18:21993815..22005229hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3811415
hg1911415
hg1811415
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961036
Supporting Variants
SamplesHGDP00456
Known GenesPSMA8
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)nssv2120049
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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