A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043449



Internal ID18785980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112483896..112502507hg38UCSC Ensembl
Innerchr12:112921700..112940311hg19UCSC Ensembl
Innerchr12:111406083..111424694hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3818612
hg1918612
hg1818612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1557n100
Supporting Variantsnssv3524941, nssv3524942
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)nsv1043449
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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