A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1420239



Internal ID16408199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97193003..97212352hg38UCSC Ensembl
Innerchr2:97858740..97878089hg19UCSC Ensembl
Innerchr2:97222467..97241816hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3819350
hg1919350
hg1819350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821502
Supporting Variants
SamplesNA10851
Known GenesANKRD36
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)nssv1420239
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer