A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052348



Internal ID18794879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:102116359..102385022hg38UCSC Ensembl
Innerchr11:101987090..102255753hg19UCSC Ensembl
Innerchr11:101492300..101760963hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38268664
hg19268664
hg18268664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1269n100
Supporting Variantsnssv3519175
Samples
Known GenesBIRC2, BIRC3, YAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052348
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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