A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441709



Internal ID15153742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111285704..111292872hg38UCSC Ensembl
Innerchr1:111828326..111835494hg19UCSC Ensembl
Innerchr1:111629849..111637017hg18UCSC Ensembl
Innerchr1:111540368..111547536hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg387169
hg197169
hg187169
hg177169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656739, nssv1656738, nssv1656737
SamplesNA18952, NA18550, NA18540
Known GenesCHIA, CHIAP2
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)nsv441709
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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