A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063450



Internal ID19152669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:42781261..43251980hg38UCSC Ensembl
Innerchr20:41409901..41880620hg19UCSC Ensembl
Innerchr20:40843315..41314034hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38470720
hg19470720
hg18470720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4317n100
Supporting Variantsnssv3737212
Samples
Known GenesPTPRT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063450
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