A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442353



Internal ID15154386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87932027..87956221hg38UCSC Ensembl
Innerchr14:88398371..88422565hg19UCSC Ensembl
Innerchr14:87468124..87492318hg18UCSC Ensembl
Innerchr14:87468124..87492318hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3824195
hg1924195
hg1824195
hg1724195
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659826, nssv1659827
SamplesNA11840, NA12716
Known GenesGALC
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)nsv442353
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer