A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586068



Internal ID18537663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:50512568..50532094hg38UCSC Ensembl
Innerchr20:49129105..49148631hg19UCSC Ensembl
Innerchr20:48562512..48582038hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3819527
hg1919527
hg1819527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1063112
Supporting Variants
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)nssv3586068
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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