A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043249



Internal ID18785780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130555429..131171996hg38UCSC Ensembl
Innerchr11:130425324..131041891hg19UCSC Ensembl
Innerchr11:129930534..130547101hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38616568
hg19616568
hg18616568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1296n100
Supporting Variantsnssv3516040
Samples
Known GenesC11orf44, MIR8052, SNX19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043249
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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