A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1994159



Internal ID17782742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:90242356..90254997hg38UCSC Ensembl
Innerchr14:90708700..90721341hg19UCSC Ensembl
Innerchr14:89778453..89791094hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3812642
hg1912642
hg1812642
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974361
Supporting Variants
SamplesHGDP00665
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)nssv1994159
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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