A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819041



Internal ID15583742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:56070719..56073960hg38UCSC Ensembl
Innerchr6:55935517..55938758hg19UCSC Ensembl
Innerchr6:56043476..56046717hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg383242
hg193242
hg183242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419520
SamplesAK1
Known GenesCOL21A1
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)nsv819041
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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