A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050347



Internal ID18792878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:131036593..131366716hg38UCSC Ensembl
Innerchr11:130906488..131236611hg19UCSC Ensembl
Innerchr11:130411698..130741821hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38330124
hg19330124
hg18330124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1297n100
Supporting Variantsnssv3520785
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050347
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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