A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550041



Internal ID15990764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18382992..18397523hg38UCSC Ensembl
Innerchr10:18671921..18686452hg19UCSC Ensembl
Innerchr10:18711927..18726458hg18UCSC Ensembl
Cytoband10p12.32
Allele length
AssemblyAllele length
hg3814532
hg1914532
hg1814532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv744148
Samples
Known GenesCACNB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550041
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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