A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000599



Internal ID19089816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17261667..17293502hg38UCSC Ensembl
Innerchr1:17588162..17619997hg19UCSC Ensembl
Innerchr1:17460749..17492584hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3831836
hg1931836
hg1831836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv129n100
Supporting Variantsnssv3700281
Samples
Known GenesPADI3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000599
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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