A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819844



Internal ID15237809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1401518..1457987hg38UCSC Ensembl
Innerchr16:1451519..1507988hg19UCSC Ensembl
Innerchr16:1391520..1447989hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3856470
hg1956470
hg1856470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418829
SamplesAK1
Known GenesC16orf91, CCDC154, CLCN7, UNKL
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)nsv819844
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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