A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819207



Internal ID15237172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140842721..140859461hg38UCSC Ensembl
Innerchr5:140222306..140239046hg19UCSC Ensembl
Innerchr5:140202490..140219230hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3816741
hg1916741
hg1816741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418664
SamplesAK1
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
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)nsv819207
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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