A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1420755



Internal ID16408715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39370204..39529900hg38UCSC Ensembl
Innerchr8:39227723..39387419hg19UCSC Ensembl
Innerchr8:39346880..39506576hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38159697
hg19159697
hg18159697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820723
Supporting Variants
SamplesNA10851
Known GenesADAM3A, ADAM5
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)nssv1420755
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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