A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060690



Internal ID19149909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:42784729..43223295hg38UCSC Ensembl
Innerchr20:41413369..41851935hg19UCSC Ensembl
Innerchr20:40846783..41285349hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38438567
hg19438567
hg18438567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4317n100
Supporting Variantsnssv3584828
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)nsv1060690
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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