A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1981626



Internal ID17864842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:27794584..27860661hg38UCSC Ensembl
Innerchr14:28263790..28329867hg19UCSC Ensembl
Innerchr14:27333630..27399707hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3866078
hg1966078
hg1866078
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv983809
Supporting Variants
SamplesHGDP01284
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1981626
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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