A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820967



Internal ID16409789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:130877037..130877600hg38UCSC Ensembl
Innerchr9:133752424..133752987hg19UCSC Ensembl
Innerchr9:132742245..132742808hg18UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg38564
hg19564
hg18564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420829
SamplesNA10851
Known GenesABL1
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)nsv820967
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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