A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv433419



Internal ID15378687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8194012..8278405hg38UCSC Ensembl
Innerchr12:8346608..8431001hg19UCSC Ensembl
Innerchr12:8237875..8322268hg18UCSC Ensembl
Innerchr12:8237875..8322268hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3884394
hg1984394
hg1884394
hg1784394
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv463300
SamplesNA19240
Known GenesFAM66C, FAM86FP, FAM90A1
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)nsv433419
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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