A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1993209



Internal ID17800391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:81238858..81246457hg38UCSC Ensembl
Innerchr14:81705202..81712801hg19UCSC Ensembl
Innerchr14:80774955..80782554hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg387600
hg197600
hg187600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974355
Supporting Variants
SamplesHGDP00778
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)nssv1993209
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer