A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1672e212



Internal ID22784599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177716919..177833316hg38UCSC Ensembl
chr5:177143920..177260317hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38116398
hg19116398
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575920, esv3575924, esv3575925, esv3575921, esv3575918, esv3575913, esv3575926
Samples400359OR, 401806DL, 400094RS, 401962BK, 401857VG, 401863BD, 400838AM, 400076LC, 401879HJ
Known GenesFAM153A
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)dgv1672e212
Frequency
Sample Size873
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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