A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv463319



Internal ID15031596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21414023..21918356hg38UCSC Ensembl
Innerchr16:21425344..21929677hg19UCSC Ensembl
Innerchr16:21332845..21837178hg18UCSC Ensembl
Innerchr16:21332845..21837178hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38504334
hg19504334
hg18504334
hg17504334
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv433438
Supporting Variants
SamplesNA18517
Known GenesIGSF6, LOC100190986, LOC100271836, METTL9, NPIPB3, OTOA, RRN3P1, SLC7A5P2
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)nssv463319
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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