A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442565



Internal ID15501284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:126182006..126192030hg38UCSC Ensembl
Innerchr9:128944285..128954309hg19UCSC Ensembl
Innerchr9:127984106..127994130hg18UCSC Ensembl
Innerchr9:126023839..126033863hg17UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3810025
hg1910025
hg1810025
hg1710025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1640272, nssv1640275, nssv1640276, nssv1640266, nssv1640261, nssv1640274, nssv1640267, nssv1640268, nssv1640269, nssv1640278, nssv1640282, nssv1640285, nssv1640270, nssv1640283, nssv1640273, nssv1640260, nssv1640284, nssv1640264, nssv1640280, nssv1640277, nssv1640262, nssv1640279, nssv1640263, nssv1640281, nssv1640265, nssv1640271
SamplesNA19141, NA18861, NA19092, NA18870, NA19127, NA19201, NA18860, NA19159, NA19200, NA19210, NA19194, NA19152, NA18871, NA19202, NA18856, NA18857, NA19101, NA18858, NA19094, NA18863, NA19144, NA19193, NA19211, NA19093, NA18872, NA18505
Known Genes
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)nsv442565
Frequency
Sample Size270
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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