A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv463279



Internal ID15031430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7788513..7974129hg38UCSC Ensembl
Innerchr8:7646035..7831651hg19UCSC Ensembl
Innerchr8:7683445..7869061hg18UCSC Ensembl
Innerchr8:7683445..7869061hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38185617
hg19185617
hg18185617
hg17185617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv433398
Supporting Variants
SamplesNA12156
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM66E, SPAG11A, SPAG11B, USP17L8, ZNF705B
MethodSNP array
AnalysisLarge CNV discovery was accomplished by using HMMSeg, considering both the `LogR ratio' and `B-allele frequency' data for each sample simultaneously. We used a four-state model, one each for null (homozygous deletion), hemizygous deletion, diploid and amplification. Initial segmentation results were merged and filtered, requiring all variants to be larger than 1 kb in length and to span at least 10 probes for amplifications or hemizygous deletions, or 3 probes for homozygous deletions. We then used a combination of paired-end sequence maps, oligo array-CGH, and variant resequencing (described in Kidd et al. 2008) to support the calls.
PlatformIllumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C)
Comments
ReferenceCooper_et_al_2008
Pubmed ID18776910
Accession Number(s)nssv463279
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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