A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040646



Internal ID18783177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112483560..112502507hg38UCSC Ensembl
Innerchr12:112921364..112940311hg19UCSC Ensembl
Innerchr12:111405747..111424694hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3818948
hg1918948
hg1818948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524940
Samples
Known GenesPTPN11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040646
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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