A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067354



Internal ID18809885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:50512779..50535619hg38UCSC Ensembl
Innerchr20:49129316..49152156hg19UCSC Ensembl
Innerchr20:48562723..48585563hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3822841
hg1922841
hg1822841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4324n100
Supporting Variantsnssv3586072
Samples
Known GenesPTPN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067354
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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