A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819907



Internal ID15584608
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418828, nssv1418851
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)nsv819907
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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