A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv115e212



Internal ID22783042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169246861..169288350hg38UCSC Ensembl
chr1:169216099..169257588hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3841490
hg1941490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575227, esv3575250, esv3575261
Samples400926LJ, 401852SK, 401321CE, 401842BJ, 400650RM, 400207HN, 400082SD, 400886MP, 400571WV, 400103BN, 400863SS, 401066MM
Known GenesNME7
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)dgv115e212
Frequency
Sample Size873
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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