A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976844



Internal ID18612050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73850066..73884634hg38UCSC Ensembl
Innerchr14:74316769..74351337hg19UCSC Ensembl
Innerchr14:73386522..73421090hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3834569
hg1934569
hg1834569
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2759527
SamplesHGDP00998
Known GenesPTGR2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976844
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