A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442101



Internal ID15154134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18994029..19001311hg38UCSC Ensembl
Innerchr8:18851539..18858821hg19UCSC Ensembl
Innerchr8:18895819..18903101hg18UCSC Ensembl
Innerchr8:18895819..18903101hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg387283
hg197283
hg187283
hg177283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658631, nssv1658630, nssv1658633, nssv1658632
SamplesNA19222, NA10863, NA12234, NA19221
Known GenesPSD3
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)nsv442101
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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