A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441891



Internal ID15500610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76368631..76371213hg38UCSC Ensembl
Innerchr4:77289784..77292366hg19UCSC Ensembl
Innerchr4:77508808..77511390hg18UCSC Ensembl
Innerchr4:77646963..77649545hg17UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg382583
hg192583
hg182583
hg172583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657580, nssv1657579, nssv1657578, nssv1657581, nssv1657582
SamplesNA12003, NA10838, NA12264, NA07055, NA07034
Known GenesCCDC158
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)nsv441891
Frequency
Sample Size270
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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