A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2002843



Internal ID17782326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:106866254..106881350hg38UCSC Ensembl
Innerchr14:107274469..107289540hg19UCSC Ensembl
Innerchr14:106345514..106360674hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3815097
hg1915072
hg1815161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974385
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)nssv2002843
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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