A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819723



Internal ID15237688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247865440..247871398hg38UCSC Ensembl
Innerchr1:248028742..248034700hg19UCSC Ensembl
Innerchr1:246095365..246101323hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg385959
hg195959
hg185959
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419745
SamplesAK1
Known GenesTRIM58
MethodOligo aCGH
AnalysisThe array was scanned with Agilent DNA microarray scanner at 2 micron resolution. The resulting image was extracted by Agilent's Feature Extraction software. The log2 ratios were analyzed using NEXUS software. Each aberration call was manually checked to confirm the accuracy of the calls.
PlatformGSE19651
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nsv819723
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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