A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820994



Internal ID16063130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236713552..236715338hg38UCSC Ensembl
Innerchr1:236876852..236878638hg19UCSC Ensembl
Innerchr1:234943475..234945261hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381787
hg191787
hg181787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421046
SamplesNA10851
Known GenesACTN2
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)nsv820994
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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