A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820230



Internal ID15238195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104682318..104780349hg38UCSC Ensembl
Innerchr14:105148655..105246686hg19UCSC Ensembl
Innerchr14:104219700..104317731hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3898032
hg1998032
hg1898032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418825
SamplesAK1
Known GenesADSSL1, AKT1, INF2, SIVA1
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.
PlatformGPL6985
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nsv820230
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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