A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442375



Internal ID15154408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49360327..49391885hg38UCSC Ensembl
Innerchr15:49652524..49684082hg19UCSC Ensembl
Innerchr15:47439816..47471374hg18UCSC Ensembl
Innerchr15:47439816..47471374hg17UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3831559
hg1931559
hg1831559
hg1731559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659971, nssv1659972
SamplesNA18621, NA18971
Known GenesFAM227B
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)nsv442375
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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