A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441691



Internal ID15500410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43630029..43639977hg38UCSC Ensembl
Innerchr1:44095700..44105648hg19UCSC Ensembl
Innerchr1:43868287..43878235hg18UCSC Ensembl
Innerchr1:43764793..43774741hg17UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg389949
hg199949
hg189949
hg179949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656651, nssv1656653, nssv1656652, nssv1656650
SamplesNA19222, NA19221, NA18853, NA18505
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)nsv441691
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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