A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050463



Internal ID18792994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67575950..67949867hg38UCSC Ensembl
Innerchr11:67343421..67717338hg19UCSC Ensembl
Innerchr11:67099997..67473914hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38373918
hg19373918
hg18373918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1214n100
Supporting Variantsnssv3710612
Samples
Known GenesACY3, ALDH3B2, DOC2GP, FAM86C2P, GSTP1, NDUFV1, NUDT8, TBX10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050463
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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