A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047758



Internal ID18790289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:59023509..59079892hg38UCSC Ensembl
Innerchr11:58790982..58847365hg19UCSC Ensembl
Innerchr11:58547558..58603941hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3856384
hg1956384
hg1856384
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1208n100
Supporting Variantsnssv3521233, nssv3508754
Samples
Known GenesLOC283194
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047758
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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