A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1420564



Internal ID16061838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181352371..181405095hg38UCSC Ensembl
Innerchr5:180779372..180832096hg19UCSC Ensembl
Innerchr5:180711978..180764702hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3852725
hg1952725
hg1852725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820415
Supporting Variants
SamplesNA10851
Known GenesOR4F16, OR4F29, OR4F3
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)nssv1420564
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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