A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv433448



Internal ID15032056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36110820..36215910hg38UCSC Ensembl
Innerchr17:34438213..34543364hg19UCSC Ensembl
Innerchr17:31462326..31567477hg18UCSC Ensembl
Innerchr17:31462326..31567477hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38105091
hg19105152
hg18105152
hg17105152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv463329
SamplesNA18517
Known GenesCCL3L1, CCL3L3, CCL4L1, CCL4L2, TBC1D3B
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)nsv433448
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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