A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1980896



Internal ID17884548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31459122..31463433hg38UCSC Ensembl
Innerchr14:31928328..31932639hg19UCSC Ensembl
Innerchr14:30998079..31002390hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg384312
hg194312
hg184312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983812
Supporting Variants
SamplesHGDP01307
Known Genes
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)nssv1980896
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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