A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063513



Internal ID19152732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:42542436..42674565hg38UCSC Ensembl
Innerchr20:41171076..41303205hg19UCSC Ensembl
Innerchr20:40604490..40736619hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38132130
hg19132130
hg18132130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4311n100
Supporting Variantsnssv3584790
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)nsv1063513
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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