A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059694



Internal ID18802225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:35730307..35805624hg38UCSC Ensembl
Innerchr20:34318229..34393546hg19UCSC Ensembl
Innerchr20:33781643..33856960hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3875318
hg1975318
hg1875318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4303n100
Supporting Variantsnssv3584750
Samples
Known GenesPHF20, RBM39
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059694
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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