A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1995398



Internal ID17772189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:89734863..89740477hg38UCSC Ensembl
Innerchr14:90201207..90206821hg19UCSC Ensembl
Innerchr14:89270960..89276574hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg385615
hg195615
hg185615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977496
Supporting Variants
SamplesHGDP00542
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)nssv1995398
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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