A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053145



Internal ID18795676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:47946350..48065398hg38UCSC Ensembl
Innerchr11:47967902..48086950hg19UCSC Ensembl
Innerchr11:47924478..48043526hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38119049
hg19119049
hg18119049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3521553
Samples
Known GenesPTPRJ
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053145
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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