A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055546



Internal ID19144765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:42474359..42632109hg38UCSC Ensembl
Innerchr20:41102999..41260749hg19UCSC Ensembl
Innerchr20:40536413..40694163hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38157751
hg19157751
hg18157751
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584785
Samples
Known GenesPTPRT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055546
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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