A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820564



Internal ID16062700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29847053..29955498hg38UCSC Ensembl
Innerchr6:29814830..29923275hg19UCSC Ensembl
Innerchr6:29922809..30031254hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38108446
hg19108446
hg18108446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420578
SamplesNA10851
Known GenesHCG4B, HLA-A, HLA-H
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)nsv820564
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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