A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1658941



Internal ID15487617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133067827..133082053hg38UCSC Ensembl
Innerchr9:135943214..135957440hg19UCSC Ensembl
Innerchr9:134933035..134947261hg18UCSC Ensembl
Innerchr9:132972768..132986994hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3814227
hg1914227
hg1814227
hg1714227
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442165
Supporting Variants
SamplesNA18976
Known GenesCEL
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)nssv1658941
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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