A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441741



Internal ID15153774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231399838..231406906hg38UCSC Ensembl
Innerchr1:231535584..231542652hg19UCSC Ensembl
Innerchr1:229602207..229609275hg18UCSC Ensembl
Innerchr1:227842319..227849387hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg387069
hg197069
hg187069
hg177069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656903, nssv1656904
SamplesNA18566, NA18942
Known GenesEGLN1
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)nsv441741
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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