A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1419931



Internal ID16061205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36176743..36222726hg38UCSC Ensembl
Innerchr17:34504103..34550170hg19UCSC Ensembl
Innerchr17:31528216..31574283hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3845984
hg1946068
hg1846068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820772
Supporting Variants
SamplesNA10851
Known GenesCCL3L1, CCL3L3, CCL4L1, CCL4L2
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)nssv1419931
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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