A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974475



Internal ID18263000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:80659499..80663016hg38UCSC Ensembl
Innerchr14:81125843..81129360hg19UCSC Ensembl
Innerchr14:80195596..80199113hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg383518
hg193518
hg183518
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2760532
SamplesHGDP00665
Known GenesCEP128
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974475
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