A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441875



Internal ID15500594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:48977617..48991360hg38UCSC Ensembl
Innerchr4:48979634..48993377hg19UCSC Ensembl
Innerchr4:48674391..48688134hg18UCSC Ensembl
Innerchr4:48820562..48834305hg17UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3813744
hg1913744
hg1813744
hg1713744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657506, nssv1657505
SamplesNA18998, NA18945
Known GenesCWH43
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)nsv441875
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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