A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2006350



Internal ID17485373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:103412194..103414113hg38UCSC Ensembl
Innerchr14:103878531..103880450hg19UCSC Ensembl
Innerchr14:102948284..102950203hg18UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg381920
hg191920
hg181920
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976372
Supporting Variants
SamplesHGDP00998
Known GenesMARK3
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)nssv2006350
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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