A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1421029



Internal ID16408989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130882158..130882908hg38UCSC Ensembl
Innerchr12:131366703..131367453hg19UCSC Ensembl
Innerchr12:129932656..129933406hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38751
hg19751
hg18751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821378
Supporting Variants
SamplesNA10851
Known Genes
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)nssv1421029
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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