A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4324n100



Internal ID20155940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50512568..50535619hg38UCSC Ensembl
chr20:49129105..49152156hg19UCSC Ensembl
chr20:48562512..48585563hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3823052
hg1923052
hg1823052
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057592, nsv1063112, nsv1067354
Samples
Known GenesPTPN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4324n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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