A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418828



Internal ID15582612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88805821..88860813hg38UCSC Ensembl
Innerchr16:88872229..88927221hg19UCSC Ensembl
Innerchr16:87399730..87454722hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3854993
hg1954993
hg1854993
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv819907
Supporting Variants
SamplesAK1
Known GenesAPRT, CDT1, GALNS, TRAPPC2L
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)nssv1418828
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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