A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441844



Internal ID15153877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:155763307..155774388hg38UCSC Ensembl
Innerchr3:155481096..155492177hg19UCSC Ensembl
Innerchr3:156963790..156974871hg18UCSC Ensembl
Innerchr3:156963798..156974879hg17UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg3811082
hg1911082
hg1811082
hg1711082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657385, nssv1657386, nssv1657384
SamplesNA10857, NA12813, NA12043
Known GenesC3orf33
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)nsv441844
Frequency
Sample Size270
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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