A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043127



Internal ID18785658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112419957..112462894hg38UCSC Ensembl
Innerchr12:112857761..112900698hg19UCSC Ensembl
Innerchr12:111342144..111385081hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3842938
hg1942938
hg1842938
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524938
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)nsv1043127
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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