A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2351e212



Internal ID20150807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:102225791..102342578hg38UCSC Ensembl
chrX:101480784..101597501hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38116788
hg19116718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3574270, esv3574266, esv3574265, esv3574269
Samples400911GA, 400821FE, 401330RR, 401321CE, 400641WJ, 400948EV, 400368SD, 401550SP, 400385LJ, 400060MC, 400007RG, 400974PS, 402063WM, 400768MN, 401594MP, 400043HC, 401606CG, 400362TV, 400837HN, 401608GE, 400103BN, 401315HK, 401552BK, 400759FV, 400785AK, 401177SL, 400209BS
Known GenesNXF2, NXF2B, TCP11X2
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)dgv2351e212
Frequency
Sample Size873
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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