A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1994706



Internal ID17539926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:90271786..90272659hg38UCSC Ensembl
Innerchr14:90738130..90739003hg19UCSC Ensembl
Innerchr14:89807883..89808756hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38874
hg19874
hg18874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974363
Supporting Variants
SamplesHGDP01307
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)nssv1994706
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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