A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1990452



Internal ID17768805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:65265742..65268652hg38UCSC Ensembl
Innerchr14:65732460..65735370hg19UCSC Ensembl
Innerchr14:64802213..64805123hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg382911
hg192911
hg182911
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983835
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)nssv1990452
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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