A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1618692



Internal ID15482289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158547206..158550627hg38UCSC Ensembl
Innerchr1:158516996..158520417hg19UCSC Ensembl
Innerchr1:156783620..156787041hg18UCSC Ensembl
Innerchr1:155330069..155333490hg17UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg383422
hg193422
hg183422
hg173422
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442095
Supporting Variants
SamplesNA18870
Known GenesOR6Y1
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)nssv1618692
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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