A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv433431



Internal ID15378699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28300379..28424609hg38UCSC Ensembl
Innerchr15:28545525..28669755hg19UCSC Ensembl
Innerchr15:26219120..26343350hg18UCSC Ensembl
Innerchr15:26219120..26343350hg17UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38124231
hg19124231
hg18124231
hg17124231
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv463312
SamplesNA19240
Known GenesGOLGA8F, GOLGA8G, HERC2
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)nsv433431
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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