A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819814



Internal ID15237779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75591363..75680225hg38UCSC Ensembl
Innerchr2:75818489..75907351hg19UCSC Ensembl
Innerchr2:75671997..75760859hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3888863
hg1988863
hg1888863
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5n43
Supporting Variantsnssv1418858
SamplesAK1
Known GenesGCFC2, MRPL19
MethodSNP array
AnalysisNormalized bead intensity data and genotype calls were obtained with Illumina BeadStudio 3.1 software. Copy number variants (CNVs) were detected on the basis of deflected log R ratios.
PlatformGPL8887
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nsv819814
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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