A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1998165



Internal ID17754116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:101667996..101691269hg38UCSC Ensembl
Innerchr14:102134333..102157606hg19UCSC Ensembl
Innerchr14:101204086..101227359hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3823274
hg1923274
hg1823274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983855
Supporting Variants
SamplesHGDP00521
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)nssv1998165
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