A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009406



Internal ID18751937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45800278..45825964hg38UCSC Ensembl
Innerchr2:46027417..46053103hg19UCSC Ensembl
Innerchr2:45880921..45906607hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3825687
hg1925687
hg1825687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581622
Samples
Known GenesPRKCE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009406
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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