A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047371



Internal ID18789902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18709926..18741490hg38UCSC Ensembl
Innerchr11:18731473..18763037hg19UCSC Ensembl
Innerchr11:18688049..18719613hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3831565
hg1931565
hg1831565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3518555
Samples
Known GenesIGSF22, PTPN5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047371
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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