A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428320



Internal ID18278084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18077459..18828668hg38UCSC Ensembl
Innerchr16:18171316..18839990hg19UCSC Ensembl
Innerchr16:18078817..18747491hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38751210
hg19668675
hg18668675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452970
SamplesHGDP00473
Known GenesABCC6P1, ARL6IP1, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NPIPA7, NPIPA8, RPS15A, SMG1
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nsv428320
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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