A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442534



Internal ID15154567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:518099..526993hg38UCSC Ensembl
Innerchr9:518099..526993hg19UCSC Ensembl
Innerchr9:508099..516993hg18UCSC Ensembl
Innerchr9:508099..516993hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg388895
hg198895
hg188895
hg178895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1638726, nssv1638721, nssv1638728, nssv1638727, nssv1638720, nssv1638722, nssv1638719, nssv1638723, nssv1638718, nssv1638725, nssv1638724
SamplesNA18914, NA18500, NA18859, NA18517, NA18855, NA19129, NA19238, NA18502, NA19128, NA19240, NA18913
Known GenesKANK1
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)nsv442534
Frequency
Sample Size270
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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