A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1421105



Internal ID16062379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104940674..104953760hg38UCSC Ensembl
Innerchr14:105407011..105420097hg19UCSC Ensembl
Innerchr14:104478056..104491142hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3813087
hg1913087
hg1813087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821194
Supporting Variants
SamplesNA10851
Known GenesAHNAK2
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)nssv1421105
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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