A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441863



Internal ID15500582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:25500431..25506388hg38UCSC Ensembl
Innerchr4:25502053..25508010hg19UCSC Ensembl
Innerchr4:25111151..25117108hg18UCSC Ensembl
Innerchr4:25178322..25184279hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg385958
hg195958
hg185958
hg175958
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657460, nssv1657461, nssv1657459
SamplesNA18860, NA18859, NA19223
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)nsv441863
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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