A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048711



Internal ID19137930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:54953335..55280796hg38UCSC Ensembl
Innerchr11:54720811..55048272hg19UCSC Ensembl
Innerchr11:54477387..54804848hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38327462
hg19327462
hg18327462
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1163n100
Supporting Variantsnssv3518382
Samples
Known GenesTRIM48
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048711
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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