A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1994347



Internal ID17458675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:90267868..90269651hg38UCSC Ensembl
Innerchr14:90734212..90735995hg19UCSC Ensembl
Innerchr14:89803965..89805748hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg381784
hg191784
hg181784
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974362
Supporting Variants
SamplesHGDP00778
Known GenesPSMC1
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)nssv1994347
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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