A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050318



Internal ID18792849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130552876..131171253hg38UCSC Ensembl
Innerchr11:130422771..131041148hg19UCSC Ensembl
Innerchr11:129927981..130546358hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38618378
hg19618378
hg18618378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1296n100
Supporting Variantsnssv3520748
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)nsv1050318
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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