A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1986773



Internal ID17883842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:58563221..58564612hg38UCSC Ensembl
Innerchr14:59029939..59031330hg19UCSC Ensembl
Innerchr14:58099692..58101083hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg381392
hg191392
hg181392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983832
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)nssv1986773
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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