A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441719



Internal ID15500438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:168119877..168122176hg38UCSC Ensembl
Innerchr1:168089115..168091414hg19UCSC Ensembl
Innerchr1:166355739..166358038hg18UCSC Ensembl
Innerchr1:164820773..164823072hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg382300
hg192300
hg182300
hg172300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656805, nssv1656804
SamplesNA18532, NA18943
Known GenesGPR161
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)nsv441719
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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