A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441683



Internal ID15153716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15465929..15484726hg38UCSC Ensembl
Innerchr1:15792424..15811221hg19UCSC Ensembl
Innerchr1:15665011..15683808hg18UCSC Ensembl
Innerchr1:15537730..15556527hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3818798
hg1918798
hg1818798
hg1718798
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656593, nssv1656592, nssv1656595, nssv1656594
SamplesNA12875, NA12865, NA18959, NA18981
Known GenesCELA2A, CELA2B
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)nsv441683
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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