A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1998308



Internal ID17820554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102085878..102087584hg38UCSC Ensembl
Innerchr14:102552215..102553921hg19UCSC Ensembl
Innerchr14:101621968..101623674hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg381707
hg191707
hg181707
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976371
Supporting Variants
SamplesHGDP00927
Known GenesHSP90AA1
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)nssv1998308
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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