A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820818



Internal ID16409640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16308582..16402829hg38UCSC Ensembl
Innerchr16:16402439..16496686hg19UCSC Ensembl
Innerchr16:16309940..16404187hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3894248
hg1994248
hg1894248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421164
SamplesNA10851
Known GenesLOC100288162, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NPIPA7, NPIPA8, PKD1P1
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)nsv820818
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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