A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv433520



Internal ID15032128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23856208..23870780hg38UCSC Ensembl
Innerchr12:24009142..24023714hg19UCSC Ensembl
Innerchr12:23900409..23914981hg18UCSC Ensembl
Innerchr12:23900409..23914981hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3814573
hg1914573
hg1814573
hg1714573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv463401
SamplesNA18956
Known GenesSOX5
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)nsv433520
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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