A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819091



Internal ID15583792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:83840858..84080812hg38UCSC Ensembl
Innerchr2:84067982..84307936hg19UCSC Ensembl
Innerchr2:83921493..84161447hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38239955
hg19239955
hg18239955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6n43
Supporting Variantsnssv1418861
SamplesAK1
Known Genes
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)nsv819091
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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