A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1993606



Internal ID17784850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:74369047..74386435hg38UCSC Ensembl
Innerchr14:74835750..74853138hg19UCSC Ensembl
Innerchr14:73905503..73922891hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3817389
hg1917389
hg1817389
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977485
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)nssv1993606
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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