A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1421055



Internal ID16409015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:94600801..94601660hg38UCSC Ensembl
Innerchr13:95253055..95253914hg19UCSC Ensembl
Innerchr13:94051056..94051915hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38860
hg19860
hg18860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821089
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)nssv1421055
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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