A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv433296



Internal ID15031878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:173619..177403hg38UCSC Ensembl
Innerchr16:223618..227402hg19UCSC Ensembl
Innerchr16:163618..167402hg18UCSC Ensembl
Innerchr16:163618..167402hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383785
hg193785
hg183785
hg173785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv463177
SamplesNA19129
Known GenesHBA1, HBA2
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)nsv433296
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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