A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442559



Internal ID15154592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:83899540..83902628hg38UCSC Ensembl
Innerchr9:86514455..86517543hg19UCSC Ensembl
Innerchr9:85704275..85707363hg18UCSC Ensembl
Innerchr9:83744009..83747097hg17UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg383089
hg193089
hg183089
hg173089
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1640077, nssv1640072, nssv1640085, nssv1640098, nssv1640100, nssv1640103, nssv1640078, nssv1640087, nssv1640088, nssv1640097, nssv1640080, nssv1640101, nssv1640075, nssv1640073, nssv1640090, nssv1640096, nssv1640082, nssv1640084, nssv1640091, nssv1640079, nssv1640102, nssv1640089, nssv1640099, nssv1640081, nssv1640083, nssv1640093, nssv1640094, nssv1640074, nssv1640092, nssv1640095, nssv1640076, nssv1640086
SamplesNA18503, NA18870, NA19127, NA19152, NA19222, NA18500, NA18516, NA19203, NA18521, NA18855, NA18507, NA18860, NA18505, NA18506, NA19161, NA19239, NA18856, NA19153, NA18515, NA19103, NA19102, NA18502, NA12872, NA18858, NA19221, NA19141, NA19128, NA18857, NA19205, NA19160, NA19240, NA19204
Known GenesKIF27
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)nsv442559
Frequency
Sample Size270
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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