A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441732



Internal ID15500451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:198979470..198987456hg38UCSC Ensembl
Innerchr1:198948599..198956585hg19UCSC Ensembl
Innerchr1:197215222..197223208hg18UCSC Ensembl
Innerchr1:195680256..195688242hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg387987
hg197987
hg187987
hg177987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656850, nssv1656851, nssv1656852, nssv1656853, nssv1656854
SamplesNA18862, NA19120, NA18542, NA19116, NA18852
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)nsv441732
Frequency
Sample Size270
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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