A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047928



Internal ID18790459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:78114229..78166323hg38UCSC Ensembl
Innerchr11:77825275..77877369hg19UCSC Ensembl
Innerchr11:77502923..77555017hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3852095
hg1952095
hg1852095
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3514453
Samples
Known GenesALG8, KCTD21-AS1, RNU6-83P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047928
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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