A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066552



Internal ID18809083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:63147299..64608176hg38UCSC Ensembl
Innerchr18:60814532..62275411hg19UCSC Ensembl
Innerchr18:58965512..60426391hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381460878
hg191460880
hg181460880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565625
Samples
Known GenesBCL2, HMSD, KDSR, LINC00305, LOC284294, LOC400654, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, VPS4B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066552
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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