A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442728



Internal ID15154761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75524185..75542101hg38UCSC Ensembl
Innerchr16:75558083..75575999hg19UCSC Ensembl
Innerchr16:74115584..74133500hg18UCSC Ensembl
Innerchr16:74115584..74133500hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3817917
hg1917917
hg1817917
hg1717917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1649898, nssv1649899, nssv1649893, nssv1649900, nssv1649894, nssv1649906, nssv1649895, nssv1649902, nssv1649901, nssv1649896, nssv1649904, nssv1649897, nssv1649892, nssv1649905, nssv1649903
SamplesNA18998, NA19192, NA18860, NA19209, NA19200, NA18951, NA19194, NA18859, NA18579, NA19202, NA18566, NA19101, NA19211, NA18622, NA18997
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442728
Frequency
Sample Size270
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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