A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1420937



Internal ID16062211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:34150369..34152735hg38UCSC Ensembl
Innerchr11:34171916..34174282hg19UCSC Ensembl
Innerchr11:34128492..34130858hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg382367
hg192367
hg182367
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820477
Supporting Variants
SamplesNA10851
Known GenesABTB2
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)nssv1420937
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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