A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv433312



Internal ID15031894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46579607..46712660hg38UCSC Ensembl
Innerchr17:44656973..44790026hg19UCSC Ensembl
Innerchr17:42012289..42145209hg18UCSC Ensembl
Innerchr17:42012289..42145209hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38133054
hg19133054
hg18132921
hg17132921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16n14
Supporting Variantsnssv463193
SamplesNA18517
Known GenesARL17A, ARL17B, NSF, NSFP1
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)nsv433312
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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