A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060468



Internal ID19149687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:42889370..43071372hg38UCSC Ensembl
Innerchr20:41518010..41700012hg19UCSC Ensembl
Innerchr20:40951424..41133426hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38182003
hg19182003
hg18182003
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4318n100
Supporting Variantsnssv3584829
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)nsv1060468
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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