A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441714



Internal ID15153747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151364223..151425402hg38UCSC Ensembl
Innerchr1:151336699..151397878hg19UCSC Ensembl
Innerchr1:149603323..149664502hg18UCSC Ensembl
Innerchr1:148149772..148210951hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3861180
hg1961180
hg1861180
hg1761180
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656764, nssv1656760, nssv1656761, nssv1656762, nssv1656765, nssv1656763
SamplesNA18561, NA18952, NA18998, NA18959, NA18537, NA19007
Known GenesPOGZ, PSMB4, SELENBP1
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)nsv441714
Frequency
Sample Size270
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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