A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442163



Internal ID15154196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112620975..112828298hg38UCSC Ensembl
Innerchr9:115383255..115590578hg19UCSC Ensembl
Innerchr9:114423076..114630399hg18UCSC Ensembl
Innerchr9:112462810..112670133hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38207324
hg19207324
hg18207324
hg17207324
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658923, nssv1658925, nssv1658926, nssv1658924
SamplesNA19209, NA19210, NA19211, NA19204
Known GenesINIP, KIAA1958, SNX30
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)nsv442163
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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