A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442162



Internal ID15500881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:111262615..111269289hg38UCSC Ensembl
Innerchr9:114024895..114031569hg19UCSC Ensembl
Innerchr9:113064716..113071390hg18UCSC Ensembl
Innerchr9:111104450..111111124hg17UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg386675
hg196675
hg186675
hg176675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658921, nssv1658922, nssv1658920
SamplesNA19204, NA19127, NA19205
Known Genes
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)nsv442162
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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