A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2353e212



Internal ID20150809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:102369659..102439456hg38UCSC Ensembl
chrX:101624580..101694377hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3869798
hg1969798
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3574274, esv3574273
Samples400688FL, 400136DM, 400376SJ
Known GenesNXF2, NXF2B
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)dgv2353e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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