A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1476e212



Internal ID19008684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40663647..40768602hg38UCSC Ensembl
chr4:40665664..40770619hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38104956
hg19104956
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575689, esv3575690
Samples400094RS, 400619MP
Known GenesNSUN7
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv1476e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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