A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820784



Internal ID16062920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18308903..18416746hg38UCSC Ensembl
Innerchr16:18402760..18510603hg19UCSC Ensembl
Innerchr16:18310261..18418104hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38107844
hg19107844
hg18107844
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421165
SamplesNA10851
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NPIPA7, NPIPA8
MethodSequencing
AnalysisRead-depth of sequencing coverage was calculated for each base of human reference genome assembly build 36.3 (hg18) by our own script. Influence of GC contents on the read-depth of sequencing coverage was adjusted using modified method suggested by Yoon et al. We sought the relationship between GC contents and read-depth of coverage in 100bp windows. Then the single base RD (Read depth) was adjusted by the relationship.
PlatformIllumina IIx
Comments
ReferenceJu_et_al_2010
Pubmed ID20802225
Accession Number(s)nsv820784
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer