A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1658924



Internal ID15152120
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442163
Supporting Variants
SamplesNA19209
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)nssv1658924
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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